P7H (p.Pro7His) variant of COL4A3 (Collagen alpha-3(IV) chain)
P7H (p.Pro7His) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
P7H (p.Pro7His) variant details
- p.Pro7His
- gnomAD 2-227164746-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.35
- CADD 5.17
- PolyPhen-2 0.11
- SIFT 0.32
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available