W20R (p.Trp20Arg) variant of KCNJ5 (P48544)
W20R (p.Trp20Arg) in KCNJ5 (P48544) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
W20R (p.Trp20Arg) variant details
- p.Trp20Arg
- TOPMed rs1944493785
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.35
- MetaLR 0.23
- MetaSVM -0.67
- CADD 13.50
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available