R4G (p.Arg4Gly) variant of COL4A3 (Collagen alpha-3(IV) chain)
R4G (p.Arg4Gly) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
R4G (p.Arg4Gly) variant details
- p.Arg4Gly
- gnomAD 2-227164736-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.108
- REVEL 0.13
- CADD 2.61
- PolyPhen-2 0.00
- SIFT 0.33
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available