I33V (p.Ile33Val) variant of ABCC4 (O15439)
I33V (p.Ile33Val) in ABCC4 (O15439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data.
I33V (p.Ile33Val) variant details
- p.Ile33Val
- gnomAD rs2040144939
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- CADD 12.90
- PolyPhen-2 0.00
- SIFT 0.44
- Most common in the South Asian population (allele frequency 0.00021)