P33S (p.Pro33Ser) variant of TMC1 (Q8TDI8)
P33S (p.Pro33Ser) in TMC1 (Q8TDI8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
P33S (p.Pro33Ser) variant details
- p.Pro33Ser
- gnomAD 9-72694575-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.17
- CADD 23.10
- PolyPhen-2 0.97
- SIFT 0.36
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available