E14Q (p.Glu14Gln) variant of TMC1 (Q8TDI8)
E14Q (p.Glu14Gln) in TMC1 (Q8TDI8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
E14Q (p.Glu14Gln) variant details
- p.Glu14Gln
- gnomAD rs1483956051
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.07
- ESM-1b 0.08
- AlphaMissense 0.12
- CADD 21.00
- PolyPhen-2 0.01
- SIFT 0.42
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available