G43A (p.Gly43Ala) variant of COL4A3 (Collagen alpha-3(IV) chain)
G43A (p.Gly43Ala) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
G43A (p.Gly43Ala) variant details
- p.Gly43Ala
- ExAC rs776294835
- TOPMed rs776294835
- gnomAD rs776294835
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.45
- CADD 20.20
- PolyPhen-2 0.75
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available