D30G (p.Asp30Gly) variant of TMC1 (Q8TDI8)
D30G (p.Asp30Gly) in TMC1 (Q8TDI8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
D30G (p.Asp30Gly) variant details
- p.Asp30Gly
- ESP rs367993839
- ExAC rs367993839
- TOPMed rs367993839
- gnomAD rs367993839
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 21.50
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available