POLL p.Asp429=
c.1287C>T · rs41562219 · VCV3024781
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.755%, nfe)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -9.9 | GERP -4.5 |
| Overall | ||
| CADD | 0.161 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.755%
European (non-Finnish) · 8,909/1,179,932 alleles
Filtering AF
0.742%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.737%
Overall
0.597%
9,631/1,613,988 alleles · rare
exomes 9,017/1,461,678 · genomes 614/152,310 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.755% | 132 |
| Remaining individualsnot grpmax-eligible | 0.488% | 205 |
| Admixed American | 0.318% | 314 |
| Middle Eastern | 0.264% | 379 |
| Amishnot grpmax-eligible | 0.219% | 456 |
| African / African-American | 0.21% | 475 |
| Finnishnot grpmax-eligible | 0.0704% | 1,421 |
| Ashkenazi Jewishnot grpmax-eligible | 0.0101% | 9,869 |
| South Asian | 0.0022% | 45,540 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- POLL
- Protein
- p.Asp429=
- Coding
- c.1287C>T
- MANE Select
- NM_001174084
- dbSNP
- rs41562219
- Type
- single nucleotide variant
- Location
- chr10:101580324 (GRCh38)
- Gene constraint
- LOEUF 0.963 · pLI <0.01 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 80.90 · 97 PDB
- Residue 429
- a binding site; the 'involved in primer binding' region; a β-strand
Similar variants
- POLL p.Asp429Asn Uncertain significance ★ ⚠ same residue
- POLL c.1066-135C>A Benign ★★ same type
- POLL c.1195-62A>G Benign ★★ same type
- POLL c.1195-6T>C Benign ★★ same type
- POLL c.573+42A>G Benign ★★ same type
- POLL c.892-76T>C Benign ★★ same type
- POLL c.892-95T>C Benign ★★ same type
- POLL c.*68C>T Benign ★★ same type
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/poll-p-asp429 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown