G29A (p.Gly29Ala) variant of KCNJ2 (P63252)
G29A (p.Gly29Ala) in KCNJ2 (P63252) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
G29A (p.Gly29Ala) variant details
- p.Gly29Ala
- gnomAD 17-70175125-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.29
- MetaLR 0.20
- MetaSVM -0.91
- CADD 24.10
- PolyPhen-2 0.92
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available