V33I (p.Val33Ile) variant of COL4A4 (Collagen alpha-4(IV) chain)
V33I (p.Val33Ile) in COL4A4 (Collagen alpha-4(IV) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
V33I (p.Val33Ile) variant details
- p.Val33Ile
- Ensembl rs2063419467
- Missense
- Variant Prioritization Score for Impact Estimate 0.144
- REVEL 0.18
- CADD 3.79
- PolyPhen-2 0.00
- SIFT 0.42
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available