E60Q (p.Glu60Gln) variant of COL4A4 (Collagen alpha-4(IV) chain)
E60Q (p.Glu60Gln) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
E60Q (p.Glu60Gln) variant details
- p.Glu60Gln
- TOPMed rs1317174183
- gnomAD rs1317174183
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.20
- CADD 22.70
- PolyPhen-2 0.02
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available