V58L (p.Val58Leu) variant of COL6A3 (Collagen alpha-3(VI) chain)
V58L (p.Val58Leu) in COL6A3 (Collagen alpha-3(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
V58L (p.Val58Leu) variant details
- p.Val58Leu
- gnomAD rs2078401683
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- REVEL 0.47
- MetaLR 0.47
- MetaSVM -0.44
- CADD 19.50
- PolyPhen-2 0.18
- SIFT 0.01
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available