KYNU p.Asp65=
c.195T>C · rs747853097 · VCV758737
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0101%, amr)
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 1.5 | GERP 0.65, phastCons 1 |
| Overall | ||
| CADD | 9.128 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0101%
Admixed American · 6/59,368 alleles
Filtering AF
0.00432%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00298%
Overall
0.00056%
9/1,606,440 alleles · ultra-rare
exomes 9/1,454,550 · genomes 0/151,890 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.0101% | 9,895 |
| African / African-American | 0.00134% | 74,770 |
| European (non-Finnish) | 0.00017% | 588,000 |
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
- KYNU
- Protein
- p.Asp65=
- Coding
- c.195T>C
- MANE Select
- NM_003937
- dbSNP
- rs747853097
- Type
- single nucleotide variant
- Location
- chr2:142918634 (GRCh38)
- Gene constraint
- LOEUF 1.364 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 95.55 · 3 PDB
Similar variants
- KYNU c.902+1G>A Pathogenic/Likely pathogenic ★★ same type
- KYNU p.Arg428Trp Pathogenic/Likely pathogenic ★★ same type
- KYNU p.Trp109Ser Pathogenic/Likely pathogenic ★★ same type
- KYNU p.Tyr156Ter Pathogenic ★★ same type
- KYNU p.Arg358Gln Uncertain significance ★★ ⚠ same type
- KYNU p.Cys425Arg Uncertain significance ★★ ⚠ same type
- KYNU p.Met187Arg Uncertain significance ★★ ⚠ same type
- KYNU p.Thr152Met Uncertain significance ★★ ⚠ 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/kynu-p-asp65 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown