V28L (p.Val28Leu) variant of TMC1 (Q8TDI8)
V28L (p.Val28Leu) in TMC1 (Q8TDI8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
V28L (p.Val28Leu) variant details
- p.Val28Leu
- Ensembl rs1826517957
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 19.60
- PolyPhen-2 0.00
- SIFT 0.30
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available