E59V (p.Glu59Val) variant of TMC1 (Q8TDI8)
E59V (p.Glu59Val) in TMC1 (Q8TDI8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
E59V (p.Glu59Val) variant details
- p.Glu59Val
- gnomAD 9-72694654-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.08
- ESM-1b 0.21
- AlphaMissense 0.26
- CADD 26.40
- PolyPhen-2 0.72
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available