R165K (p.Arg165Lys) variant of ABCC4 (O15439)
R165K (p.Arg165Lys) in ABCC4 (O15439) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data.
R165K (p.Arg165Lys) variant details
- p.Arg165Lys
- ExAC rs757377659
- TOPMed rs757377659
- gnomAD rs757377659
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- CADD 15.90
- PolyPhen-2 0.03
- SIFT 1.00
- Most common in the East Asian population (allele frequency 0.00019)