I147V (p.Ile147Val) variant of ABCC4 (O15439)
I147V (p.Ile147Val) in ABCC4 (O15439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data.
I147V (p.Ile147Val) variant details
- p.Ile147Val
- TOPMed rs1346480183
- gnomAD rs1346480183
- Missense
- Variant Prioritization Score for Impact Estimate 0.0765
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.94
- Most common in the East Asian population (allele frequency 2.5e-05)