V48M (p.Val48Met) variant of COL6A1 (Collagen alpha-1(VI) chain)
V48M (p.Val48Met) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
V48M (p.Val48Met) variant details
- p.Val48Met
- gnomAD 21-45982678-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.742
- REVEL 0.71
- MetaLR 0.66
- MetaSVM 0.44
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available