G43E (p.Gly43Glu) variant of COL4A3 (Collagen alpha-3(IV) chain)
G43E (p.Gly43Glu) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
G43E (p.Gly43Glu) variant details
- p.Gly43Glu
- ExAC rs776294835
- TOPMed rs776294835
- gnomAD rs776294835
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.51
- CADD 21.80
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available