P65A (p.Pro65Ala) variant of COL4A5 (Collagen alpha-5(IV) chain)
P65A (p.Pro65Ala) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
P65A (p.Pro65Ala) variant details
- p.Pro65Ala
- gnomAD X-108559115-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.682
- REVEL 0.68
- CADD 21.90
- PolyPhen-2 0.85
- SIFT 0.77
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available