T63R (p.Thr63Arg) variant of TMC1 (Q8TDI8)
T63R (p.Thr63Arg) in TMC1 (Q8TDI8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
T63R (p.Thr63Arg) variant details
- p.Thr63Arg
- gnomAD 9-72694666-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.35
- CADD 22.80
- PolyPhen-2 0.97
- SIFT 0.58
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available