L38M (p.Leu38Met) variant of COL6A1 (Collagen alpha-1(VI) chain)
L38M (p.Leu38Met) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
L38M (p.Leu38Met) variant details
- p.Leu38Met
- gnomAD 21-45982648-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- REVEL 0.59
- MetaLR 0.70
- MetaSVM 0.29
- CADD 28.50
- PolyPhen-2 0.98
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available