P67A (p.Pro67Ala) variant of COL4A5 (Collagen alpha-5(IV) chain)
P67A (p.Pro67Ala) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
P67A (p.Pro67Ala) variant details
- p.Pro67Ala
- gnomAD X-108559121-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.40
- CADD 18.00
- PolyPhen-2 0.01
- SIFT 0.22
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available