L38V (p.Leu38Val) variant of COL6A1 (Collagen alpha-1(VI) chain)
L38V (p.Leu38Val) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
L38V (p.Leu38Val) variant details
- p.Leu38Val
- ExAC rs748478347
- gnomAD rs748478347
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.41
- CADD 22.80
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available