A162S (p.Ala162Ser) variant of ABCC4 (O15439)
A162S (p.Ala162Ser) in ABCC4 (O15439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data.
A162S (p.Ala162Ser) variant details
- p.Ala162Ser
- ExAC rs781485056
- TOPMed rs781485056
- gnomAD rs781485056
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- CADD 15.70
- PolyPhen-2 0.03
- SIFT 0.33
- Most common in the Middle Eastern population (allele frequency 0.00017)