E51K (p.Glu51Lys) variant of TMC1 (Q8TDI8)
E51K (p.Glu51Lys) in TMC1 (Q8TDI8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
E51K (p.Glu51Lys) variant details
- p.Glu51Lys
- TOPMed rs1446131992
- gnomAD rs1446131992
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.17
- CADD 22.70
- PolyPhen-2 0.06
- SIFT 0.37
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available