E18K (p.Glu18Lys) variant of TMC1 (Q8TDI8)
E18K (p.Glu18Lys) in TMC1 (Q8TDI8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
E18K (p.Glu18Lys) variant details
- p.Glu18Lys
- ExAC rs776220877
- gnomAD rs776220877
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 24.30
- PolyPhen-2 0.64
- SIFT 0.48
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available