D53G (p.Asp53Gly) variant of TMC1 (Q8TDI8)
D53G (p.Asp53Gly) 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, published literature, and structural context.
D53G (p.Asp53Gly) variant details
- p.Asp53Gly
- gnomAD 9-72694636-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.23
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available