P15L (p.Pro15Leu) variant of COL5A1 (Collagen alpha-1(V) chain)
P15L (p.Pro15Leu) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
P15L (p.Pro15Leu) variant details
- p.Pro15Leu
- ExAC rs768205756
- TOPMed rs768205756
- gnomAD rs768205756
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.31
- CADD 20.30
- PolyPhen-2 0.73
- SIFT 0.38
- Most common in the South Asian population (allele frequency 2.6e-05)
- Structural context available