D30V (p.Asp30Val) variant of TMC1 (Q8TDI8)
D30V (p.Asp30Val) in TMC1 (Q8TDI8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
D30V (p.Asp30Val) variant details
- p.Asp30Val
- gnomAD 9-72694567-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 22.90
- PolyPhen-2 0.50
- SIFT 0.25
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available