I97V (p.Ile97Val) variant of ABCC4 (O15439)
I97V (p.Ile97Val) in ABCC4 (O15439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data.
I97V (p.Ile97Val) variant details
- p.Ile97Val
- TOPMed rs1230621037
- gnomAD rs1230621037
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- CADD 13.50
- PolyPhen-2 0.03
- SIFT 0.41
- Most common in the Non-Finnish European population (allele frequency 9e-07)