E70K (p.Glu70Lys) variant of TMC1 (Q8TDI8)
E70K (p.Glu70Lys) in TMC1 (Q8TDI8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
E70K (p.Glu70Lys) variant details
- p.Glu70Lys
- cosmic curated COSV52776
- 1000Genomes rs2132189668
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.43
- CADD 20.20
- PolyPhen-2 0.16
- SIFT 0.40
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available