E63Q (p.Glu63Gln) variant of KCNJ3 (P48549)
E63Q (p.Glu63Gln) in KCNJ3 (P48549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
E63Q (p.Glu63Gln) variant details
- p.Glu63Gln
- cosmic curated COSV10732
- TOPMed rs1392113942
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- REVEL 0.79
- CADD 24.30
- PolyPhen-2 0.72
- SIFT 0.07
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available