G3A (p.Gly3Ala) variant of KCNJ5 (P48544)
G3A (p.Gly3Ala) in KCNJ5 (P48544) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
G3A (p.Gly3Ala) variant details
- p.Gly3Ala
- gnomAD 11-128911281-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- REVEL 0.44
- MetaLR 0.69
- MetaSVM 0.18
- CADD 24.80
- PolyPhen-2 0.46
- SIFT 0.06
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available