G31E (p.Gly31Glu) variant of KCNJ2 (P63252)
G31E (p.Gly31Glu) in KCNJ2 (P63252) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
G31E (p.Gly31Glu) variant details
- p.Gly31Glu
- gnomAD 17-70175131-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- REVEL 0.51
- MetaLR 0.45
- MetaSVM -0.30
- CADD 26.40
- PolyPhen-2 0.76
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available