R4P (p.Arg4Pro) variant of COL4A3 (Collagen alpha-3(IV) chain)
R4P (p.Arg4Pro) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
R4P (p.Arg4Pro) variant details
- p.Arg4Pro
- gnomAD 2-227164737-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.20
- CADD 14.70
- PolyPhen-2 0.05
- SIFT 0.25
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available