Y46C (p.Tyr46Cys) variant of KCNE1 (P15382)
Y46C (p.Tyr46Cys) in KCNE1 (P15382) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Rare genetic deafness; Cardiovascular phenotype; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Y46C (p.Tyr46Cys) variant details
- p.Tyr46Cys
- rs1402178514
- ClinGen CA410198408
- ClinVar RCV000612549
- ClinVar RCV000786138
- Conflicting interpretations
- Rare genetic deafness; Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.754
- REVEL 0.78
- ESM-1b 1.00
- AlphaMissense 0.74
- CADD 27.80
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Rare genetic deafness; Cardiovascular phenotype; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.3e-05)
- Structural context available
- Functional MAVE scores for KCNE1: score 1.03
- Cited in: Long QT Syndrome Overview. (PMID 20301308)