A17T (p.Ala17Thr) variant of COL6A2 (Collagen alpha-2(VI) chain)
A17T (p.Ala17Thr) in COL6A2 (Collagen alpha-2(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
A17T (p.Ala17Thr) variant details
- p.Ala17Thr
- gnomAD rs1308322836
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- REVEL 0.24
- CADD 1.03
- PolyPhen-2 0.00
- SIFT 0.37
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available