V7E (p.Val7Glu) variant of COL4A4 (Collagen alpha-4(IV) chain)
V7E (p.Val7Glu) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
V7E (p.Val7Glu) variant details
- p.Val7Glu
- gnomAD rs1310995837
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- REVEL 0.20
- CADD 1.64
- PolyPhen-2 0.00
- SIFT 0.09
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available