D52G (p.Asp52Gly) variant of TMC1 (Q8TDI8)
D52G (p.Asp52Gly) 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.
D52G (p.Asp52Gly) variant details
- p.Asp52Gly
- TOPMed rs1185774277
- gnomAD rs1185774277
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.32
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available