V48I (p.Val48Ile) variant of TMC1 (Q8TDI8)
V48I (p.Val48Ile) in TMC1 (Q8TDI8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
V48I (p.Val48Ile) variant details
- p.Val48Ile
- 1000Genomes rs562374634
- ExAC rs562374634
- gnomAD rs562374634
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 16.40
- PolyPhen-2 0.00
- SIFT 0.24
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00013)
- Structural context available