R14P (p.Arg14Pro) variant of COL5A1 (Collagen alpha-1(V) chain)
R14P (p.Arg14Pro) in COL5A1 (Collagen alpha-1(V) chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
R14P (p.Arg14Pro) variant details
- p.Arg14Pro
- gnomAD 9-134642226-CCG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.37
- CADD 23.60
- Population evidence available
- Structural context available
- Literature evidence available