A4P (p.Ala4Pro) variant of COL6A1 (Collagen alpha-1(VI) chain)
A4P (p.Ala4Pro) in COL6A1 (Collagen alpha-1(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.
A4P (p.Ala4Pro) variant details
- p.Ala4Pro
- gnomAD 21-45981860-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.23
- MetaLR 0.44
- MetaSVM -0.66
- CADD 15.10
- PolyPhen-2 0.00
- SIFT 0.28
- Population evidence available
- Structural context available
- Literature evidence available