H77R (p.His77Arg) variant of COL6A3 (Collagen alpha-3(VI) chain)
H77R (p.His77Arg) in COL6A3 (Collagen alpha-3(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
H77R (p.His77Arg) variant details
- p.His77Arg
- gnomAD rs2078399264
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- REVEL 0.16
- MetaLR 0.12
- MetaSVM -0.94
- CADD 12.50
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available