H69T (p.His69Thr) variant of COL6A2 (Collagen alpha-2(VI) chain)
H69T (p.His69Thr) in COL6A2 (Collagen alpha-2(VI) chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
H69T (p.His69Thr) variant details
- p.His69Thr
- gnomAD 21-46112066-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.354
- CADD 22.50
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Literature evidence available