A25P (p.Ala25Pro) variant of KCNJ2 (P63252)
A25P (p.Ala25Pro) in KCNJ2 (P63252) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
A25P (p.Ala25Pro) variant details
- p.Ala25Pro
- TOPMed rs1316063007
- gnomAD rs1316063007
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.13
- MetaLR 0.05
- MetaSVM -1.07
- CADD 21.90
- SIFT 0.53
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available