I8V (p.Ile8Val) variant of TMC1 (Q8TDI8)
I8V (p.Ile8Val) in TMC1 (Q8TDI8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
I8V (p.Ile8Val) variant details
- p.Ile8Val
- gnomAD rs1287826699
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 20.40
- PolyPhen-2 0.46
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available