R6H (p.Arg6His) variant of COL5A1 (Collagen alpha-1(V) chain)
R6H (p.Arg6His) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
R6H (p.Arg6His) variant details
- p.Arg6His
- TOPMed rs1166669897
- gnomAD rs1166669897
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- REVEL 0.52
- CADD 25.30
- PolyPhen-2 0.52
- SIFT 0.07
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 5.7e-05)
- Structural context available