D60E (p.Asp60Glu) variant of TMC1 (Q8TDI8)
D60E (p.Asp60Glu) in TMC1 (Q8TDI8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
D60E (p.Asp60Glu) variant details
- p.Asp60Glu
- gnomAD 9-72694658-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.09
- ESM-1b 0.30
- AlphaMissense 0.43
- CADD 20.30
- PolyPhen-2 0.03
- SIFT 0.36
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available