C161G (p.Cys161Gly) variant of ABCC4 (O15439)
C161G (p.Cys161Gly) in ABCC4 (O15439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data.
C161G (p.Cys161Gly) variant details
- p.Cys161Gly
- TOPMed rs1166604656
- gnomAD rs1166604656
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- CADD 23.60
- PolyPhen-2 0.25
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)