R14G (p.Arg14Gly) variant of COL4A4 (Collagen alpha-4(IV) chain)
R14G (p.Arg14Gly) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
R14G (p.Arg14Gly) variant details
- p.Arg14Gly
- ExAC rs777010630
- TOPMed rs777010630
- gnomAD rs777010630
- Missense
- Variant Prioritization Score for Impact Estimate 0.147
- REVEL 0.16
- CADD 10.20
- PolyPhen-2 0.00
- SIFT 0.09
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available