A17D (p.Ala17Asp) variant of COL6A2 (Collagen alpha-2(VI) chain)
A17D (p.Ala17Asp) in COL6A2 (Collagen alpha-2(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
A17D (p.Ala17Asp) variant details
- p.Ala17Asp
- 1000Genomes rs568363712
- ExAC rs568363712
- gnomAD rs568363712
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.49
- CADD 12.30
- PolyPhen-2 0.05
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available