H4R (p.His4Arg) variant of COL5A1 (Collagen alpha-1(V) chain)
H4R (p.His4Arg) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
H4R (p.His4Arg) variant details
- p.His4Arg
- TOPMed rs946946970
- gnomAD rs946946970
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.41
- CADD 21.90
- PolyPhen-2 0.23
- SIFT 0.30
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available