A136G (p.Ala136Gly) variant of ABCC4 (O15439)
A136G (p.Ala136Gly) in ABCC4 (O15439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data.
A136G (p.Ala136Gly) variant details
- p.Ala136Gly
- ExAC rs764555345
- TOPMed rs764555345
- gnomAD rs764555345
- Missense
- Variant Prioritization Score for Impact Estimate 0.0594
- CADD 0.02
- PolyPhen-2 0.00
- SIFT 0.39
- Most common in the REMAINING population (allele frequency 3.3e-05)