R14R (p.Arg14Arg) variant of COL5A1 (Collagen alpha-1(V) chain)
R14R (p.Arg14Arg) in COL5A1 (Collagen alpha-1(V) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
R14R (p.Arg14Arg) variant details
- p.Arg14Arg
- rs1554772576
- gnomAD 9-134642229-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.272
- CADD 13.50
- Most common in the South Asian population (allele frequency 2.6e-05)
- Structural context available
- Literature evidence available