A49S (p.Ala49Ser) variant of COL6A1 (Collagen alpha-1(VI) chain)
A49S (p.Ala49Ser) 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 and structural context.
A49S (p.Ala49Ser) variant details
- p.Ala49Ser
- gnomAD rs1338252132
- Missense
- Variant Prioritization Score for Impact Estimate 0.744
- REVEL 0.69
- CADD 29.50
- PolyPhen-2 1.00
- SIFT 0.03
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available