Y5H (p.Tyr5His) variant of ABCC4 (O15439)
Y5H (p.Tyr5His) in ABCC4 (O15439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data.
Y5H (p.Tyr5His) variant details
- p.Tyr5His
- TOPMed rs1008402930
- gnomAD rs1008402930
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- CADD 19.80
- PolyPhen-2 0.00
- SIFT 0.52
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)