V65A (p.Val65Ala) variant of COL6A3 (Collagen alpha-3(VI) chain)
V65A (p.Val65Ala) in COL6A3 (Collagen alpha-3(VI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
V65A (p.Val65Ala) variant details
- p.Val65Ala
- rs1184389502
- ClinGen CA351228208
- ClinVar RCV003145822
- TOPMed rs1184389502
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.602
- REVEL 0.76
- MetaLR 0.63
- MetaSVM -0.07
- CADD 24.80
- PolyPhen-2 0.93
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available