P15R (p.Pro15Arg) variant of COL5A1 (Collagen alpha-1(V) chain)
P15R (p.Pro15Arg) in COL5A1 (Collagen alpha-1(V) chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
P15R (p.Pro15Arg) variant details
- p.Pro15Arg
- gnomAD 9-134642228-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.383
- CADD 23.70
- Population evidence available
- Structural context available
- Literature evidence available