R10H (p.Arg10His) variant of COL5A1 (Collagen alpha-1(V) chain)
R10H (p.Arg10His) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
R10H (p.Arg10His) variant details
- p.Arg10His
- TOPMed rs1367541732
- gnomAD rs1367541732
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.33
- CADD 22.10
- PolyPhen-2 0.07
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 3e-05)
- Structural context available