A18D (p.Ala18Asp) variant of COL6A1 (Collagen alpha-1(VI) chain)
A18D (p.Ala18Asp) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
A18D (p.Ala18Asp) variant details
- p.Ala18Asp
- gnomAD 21-45981903-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.18
- MetaLR 0.46
- MetaSVM -0.55
- CADD 14.40
- PolyPhen-2 0.02
- SIFT 0.20
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available