E25G (p.Glu25Gly) variant of TMC1 (Q8TDI8)
E25G (p.Glu25Gly) 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.
E25G (p.Glu25Gly) variant details
- p.Glu25Gly
- gnomAD rs1256718391
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.08
- ESM-1b 1.00
- AlphaMissense 0.10
- CADD 25.10
- PolyPhen-2 0.93
- SIFT 0.20
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available