Y88S (p.Tyr88Ser) variant of ABCC4 (O15439)
Y88S (p.Tyr88Ser) in ABCC4 (O15439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data.
Y88S (p.Tyr88Ser) variant details
- p.Tyr88Ser
- 1000Genomes rs527853384
- TOPMed rs527853384
- gnomAD rs527853384
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- CADD 25.10
- PolyPhen-2 0.27
- SIFT 0.00
- Most common in the 1KG:KHV population (allele frequency 0.005)