E19V (p.Glu19Val) variant of TMC1 (Q8TDI8)
E19V (p.Glu19Val) in TMC1 (Q8TDI8) 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 0.24 / 1. The record also includes population frequency data and structural context.
E19V (p.Glu19Val) variant details
- p.Glu19Val
- TOPMed rs1378821340
- gnomAD rs1378821340
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.13
- ESM-1b 0.10
- AlphaMissense 0.11
- CADD 25.40
- PolyPhen-2 0.35
- SIFT 0.28
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available