V11E (p.Val11Glu) variant of COL4A3 (Collagen alpha-3(IV) chain)
V11E (p.Val11Glu) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
V11E (p.Val11Glu) variant details
- p.Val11Glu
- gnomAD 2-227164758-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.18
- CADD 15.50
- PolyPhen-2 0.00
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 3.7e-06)
- Structural context available
- Literature evidence available