V66A (p.Val66Ala) variant of COL6A3 (Collagen alpha-3(VI) chain)
V66A (p.Val66Ala) in COL6A3 (Collagen alpha-3(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
V66A (p.Val66Ala) variant details
- p.Val66Ala
- Ensembl rs113347765
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.42
- MetaLR 0.47
- MetaSVM -0.46
- CADD 23.20
- PolyPhen-2 0.02
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available