P54S (p.Pro54Ser) variant of TMC1 (Q8TDI8)
P54S (p.Pro54Ser) in TMC1 (Q8TDI8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
P54S (p.Pro54Ser) variant details
- p.Pro54Ser
- ExAC rs780458439
- gnomAD rs780458439
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.15
- CADD 15.50
- PolyPhen-2 0.41
- SIFT 0.47
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available