T45T (p.Thr45Thr) variant of TMC1 (Q8TDI8)
T45T (p.Thr45Thr) in TMC1 (Q8TDI8) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
T45T (p.Thr45Thr) variant details
- p.Thr45Thr
- rs111353632
- gnomAD 9-72694613-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.166
- CADD 7.74
- Most common in the HGDP:SAN population (allele frequency 0.083)
- Structural context available
- Literature evidence available