E61K (p.Glu61Lys) variant of TMC1 (Q8TDI8)
E61K (p.Glu61Lys) in TMC1 (Q8TDI8) is a missense change. Clinical records from ClinVar 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 0.36 / 1. The record also includes population frequency data and structural context.
E61K (p.Glu61Lys) variant details
- p.Glu61Lys
- cosmic curated COSV10739
- ExAC rs755733171
- TOPMed rs755733171
- gnomAD rs755733171
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.06
- ESM-1b 0.56
- AlphaMissense 0.15
- CADD 22.90
- PolyPhen-2 0.02
- SIFT 0.33
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available