V6I (p.Val6Ile) variant of TMC1 (Q8TDI8)
V6I (p.Val6Ile) in TMC1 (Q8TDI8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
V6I (p.Val6Ile) variant details
- p.Val6Ile
- ExAC rs751771334
- gnomAD rs751771334
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 27.50
- PolyPhen-2 0.42
- SIFT 0.21
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available