A38T (p.Ala38Thr) variant of COL6A3 (Collagen alpha-3(VI) chain)
A38T (p.Ala38Thr) in COL6A3 (Collagen alpha-3(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
A38T (p.Ala38Thr) variant details
- p.Ala38Thr
- TOPMed rs1224533621
- gnomAD rs1224533621
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- REVEL 0.51
- MetaLR 0.55
- MetaSVM -0.09
- CADD 26.30
- PolyPhen-2 0.99
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available