P3S (p.Pro3Ser) variant of TMC1 (Q8TDI8)
P3S (p.Pro3Ser) 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.
P3S (p.Pro3Ser) variant details
- p.Pro3Ser
- gnomAD 9-72648655-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 22.30
- PolyPhen-2 0.97
- SIFT 0.05
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available