E51G (p.Glu51Gly) variant of TMC1 (Q8TDI8)
E51G (p.Glu51Gly) in TMC1 (Q8TDI8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
E51G (p.Glu51Gly) variant details
- p.Glu51Gly
- gnomAD rs1292549270
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.02
- ESM-1b 0.00
- AlphaMissense 0.17
- CADD 24.20
- PolyPhen-2 0.06
- SIFT 0.03
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available