V56I (p.Val56Ile) variant of KCNJ2 (P63252)
V56I (p.Val56Ile) in KCNJ2 (P63252) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
V56I (p.Val56Ile) variant details
- p.Val56Ile
- rs1264595509
- ClinGen CA400860014
- ClinVar RCV001772578
- TOPMed rs1264595509
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- REVEL 0.42
- MetaLR 0.76
- MetaSVM 0.28
- CADD 22.30
- SIFT 0.19
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available