I150V (p.Ile150Val) variant of ABCC4 (O15439)
I150V (p.Ile150Val) in ABCC4 (O15439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data.
I150V (p.Ile150Val) variant details
- p.Ile150Val
- 1000Genomes rs199805372
- ExAC rs199805372
- TOPMed rs199805372
- gnomAD rs199805372
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- CADD 10.30
- PolyPhen-2 0.01
- SIFT 0.73
- Most common in the 1KG:CHS population (allele frequency 0.0049)