V28V (p.Val28Val) variant of TMC1 (Q8TDI8)
V28V (p.Val28Val) in TMC1 (Q8TDI8) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
V28V (p.Val28Val) variant details
- p.Val28Val
- rs748771130
- gnomAD 9-72694562-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.409
- CADD 8.80
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available