G28V (p.Gly28Val) variant of KCNJ3 (P48549)
G28V (p.Gly28Val) in KCNJ3 (P48549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
G28V (p.Gly28Val) variant details
- p.Gly28Val
- cosmic curated COSV10732
- ExAC rs780801298
- gnomAD rs780801298
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.32
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.06
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available