G110A (p.Gly110Ala) variant of COL4A4 (Collagen alpha-4(IV) chain)
G110A (p.Gly110Ala) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
G110A (p.Gly110Ala) variant details
- p.Gly110Ala
- gnomAD rs1370340334
- Missense
- Variant Prioritization Score for Impact Estimate 0.883
- REVEL 0.94
- CADD 28.00
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available