L2V (p.Leu2Val) variant of COL6A2 (Collagen alpha-2(VI) chain)
L2V (p.Leu2Val) in COL6A2 (Collagen alpha-2(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
L2V (p.Leu2Val) variant details
- p.Leu2Val
- gnomAD 21-46111480-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.22
- CADD 17.30
- PolyPhen-2 0.02
- SIFT 0.03
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Literature evidence available