R10R (p.Arg10Arg) variant of COL5A1 (Collagen alpha-1(V) chain)
R10R (p.Arg10Arg) in COL5A1 (Collagen alpha-1(V) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
R10R (p.Arg10Arg) variant details
- p.Arg10Arg
- rs1456650492
- gnomAD 9-134642217-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.431
- CADD 14.60
- Most common in the Non-Finnish European population (allele frequency 3e-05)
- Structural context available
- Literature evidence available