A11T (p.Ala11Thr) variant of COL6A3 (Collagen alpha-3(VI) chain)
A11T (p.Ala11Thr) in COL6A3 (Collagen alpha-3(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
A11T (p.Ala11Thr) variant details
- p.Ala11Thr
- TOPMed rs1327591330
- gnomAD rs1327591330
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.40
- MetaLR 0.80
- MetaSVM 0.30
- CADD 23.30
- SIFT 0.33
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available