E57Q (p.Glu57Gln) variant of TMC1 (Q8TDI8)
E57Q (p.Glu57Gln) in TMC1 (Q8TDI8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
E57Q (p.Glu57Gln) variant details
- p.Glu57Gln
- TOPMed rs1826519799
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.06
- ESM-1b 0.74
- AlphaMissense 0.18
- CADD 23.60
- PolyPhen-2 0.53
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available