FLT1 p.Ala434=
c.1302C>T · rs61763178 · VCV774826
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
low-frequency (popmax 2.13%, afr)
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 -2.3 | GERP -5.1 |
| Overall | ||
| CADD | 6.228 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
2.13%
African / African-American · 1,599/74,984 alleles
Filtering AF
2.05%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 2.01%
Overall
0.121%
1,948/1,613,938 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 2.13% | 47 |
| Middle Eastern | 0.297% | 337 |
| Remaining individualsnot grpmax-eligible | 0.16% | 625 |
| Admixed American | 0.133% | 750 |
| European (non-Finnish) | 0.0119% | 8,428 |
| South Asian | 0.00988% | 10,120 |
| Ashkenazi Jewishnot grpmax-eligible | 0.00338% | 29,600 |
| Finnishnot grpmax-eligible | 0.00156% | 64,024 |
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
- FLT1
- Protein
- p.Ala434=
- Coding
- c.1302C>T
- MANE Select
- NM_002019
- dbSNP
- rs61763178
- Type
- single nucleotide variant
- Location
- chr13:28427293 (GRCh38)
- Gene constraint
- LOEUF 0.379 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 72.86 · 12 PDB
- Residue 434
- the ig-like c2-type 5 domain
Similar variants
- FLT1 p.Ala434Thr Uncertain significance ★ ⚠ same residue
- FLT1 p.Asp6Asn Benign ★★ same type
- FLT1 p.Cys107= Likely benign ★★ same type
- FLT1 p.Ile548Met Likely benign ★★ same type
- FLT1 p.Leu492= Benign ★★ same type
- FLT1 p.Met938Val Likely benign ★★ same type
- FLT1 p.Pro1068= Benign ★★ same type
- FLT1 p.Pro1201Leu Likely 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/flt1-p-ala434 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown