P65Q (p.Pro65Gln) variant of COL4A5 (Collagen alpha-5(IV) chain)
P65Q (p.Pro65Gln) in COL4A5 (Collagen alpha-5(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
P65Q (p.Pro65Gln) variant details
- p.Pro65Gln
- gnomAD X-108559116-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.554
- REVEL 0.47
- CADD 20.60
- PolyPhen-2 0.53
- SIFT 0.91
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available