Q22H (p.Gln22His) variant of KCNE1 (P15382)
Q22H (p.Gln22His) in KCNE1 (P15382) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Q22H (p.Gln22His) variant details
- p.Gln22His
- rs1473555254
- ClinGen CA410198543
- ClinVar RCV002367157
- ClinVar RCV004779314
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.30
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 0.12
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 5.1e-05)
- Structural context available
- Functional MAVE scores for KCNE1: score 1.48
- Cited in: Long QT Syndrome Overview. (PMID 20301308)