V4M (p.Val4Met) variant of ABCC4 (O15439)
V4M (p.Val4Met) in ABCC4 (O15439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data.
V4M (p.Val4Met) variant details
- p.Val4Met
- ESP rs140957166
- ExAC rs140957166
- TOPMed rs140957166
- gnomAD rs140957166
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- CADD 21.60
- PolyPhen-2 0.04
- SIFT 0.03
- Most common in the Middle Eastern population (allele frequency 0.00035)