P34R (p.Pro34Arg) variant of COL4A5 (Collagen alpha-5(IV) chain)
P34R (p.Pro34Arg) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
P34R (p.Pro34Arg) variant details
- p.Pro34Arg
- gnomAD X-108539765-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.31
- CADD 21.60
- PolyPhen-2 0.07
- SIFT 0.11
- Most common in the South Asian population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available