R10G (p.Arg10Gly) variant of COL5A1 (Collagen alpha-1(V) chain)
R10G (p.Arg10Gly) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
R10G (p.Arg10Gly) variant details
- p.Arg10Gly
- TOPMed rs1457110544
- gnomAD rs1457110544
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.34
- CADD 23.30
- PolyPhen-2 0.01
- SIFT 0.04
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available