S20I (p.Ser20Ile) variant of TMC1 (Q8TDI8)
S20I (p.Ser20Ile) in TMC1 (Q8TDI8) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
S20I (p.Ser20Ile) variant details
- p.Ser20Ile
- 1000Genomes rs189479995
- ExAC rs189479995
- TOPMed rs189479995
- gnomAD rs189479995
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.13
- CADD 23.50
- PolyPhen-2 0.94
- SIFT 0.15
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available