R4H (p.Arg4His) variant of COL4A5 (Collagen alpha-5(IV) chain)
R4H (p.Arg4His) 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.
R4H (p.Arg4His) variant details
- p.Arg4His
- gnomAD X-108440136-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.32
- MetaLR 0.39
- MetaSVM -0.65
- CADD 20.70
- PolyPhen-2 0.00
- SIFT 0.43
- Most common in the Non-Finnish European population (allele frequency 2.4e-06)
- Structural context available
- Literature evidence available