S54A (p.Ser54Ala) variant of COL6A2 (Collagen alpha-2(VI) chain)
S54A (p.Ser54Ala) in COL6A2 (Collagen alpha-2(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
S54A (p.Ser54Ala) variant details
- p.Ser54Ala
- gnomAD 21-46112023-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.806
- REVEL 0.93
- CADD 26.20
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Literature evidence available