H69H (p.His69His) variant of COL6A2 (Collagen alpha-2(VI) chain)
H69H (p.His69His) in COL6A2 (Collagen alpha-2(VI) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
H69H (p.His69His) variant details
- p.His69His
- rs754275746
- gnomAD 21-46112070-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.28
- CADD 9.78
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Literature evidence available