H46H (p.His46His) variant of COL6A2 (Collagen alpha-2(VI) chain)
H46H (p.His46His) in COL6A2 (Collagen alpha-2(VI) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
H46H (p.His46His) variant details
- p.His46His
- rs201753549
- gnomAD 21-46112001-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0932
- CADD 1.77
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available