V11M (p.Val11Met) variant of COL4A3 (Collagen alpha-3(IV) chain)
V11M (p.Val11Met) in COL4A3 (Collagen alpha-3(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
V11M (p.Val11Met) variant details
- p.Val11Met
- ExAC rs774004775
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.20
- CADD 12.60
- PolyPhen-2 0.08
- SIFT 0.08
- Most common in the South Asian population (allele frequency 2.5e-05)
- Structural context available