S10G (p.Ser10Gly) variant of KCNJ2 (P63252)
S10G (p.Ser10Gly) in KCNJ2 (P63252) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
S10G (p.Ser10Gly) variant details
- p.Ser10Gly
- TOPMed rs1252050049
- gnomAD rs1252050049
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.27
- MetaLR 0.28
- MetaSVM -0.62
- CADD 25.70
- PolyPhen-2 0.76
- SIFT 0.03
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available