S20N (p.Ser20Asn) variant of TMC1 (Q8TDI8)
S20N (p.Ser20Asn) 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 0.27 / 1. The record also includes population frequency data and structural context.
S20N (p.Ser20Asn) variant details
- p.Ser20Asn
- 1000Genomes rs189479995
- ExAC rs189479995
- TOPMed rs189479995
- gnomAD rs189479995
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- ESM-1b 0.00
- AlphaMissense 0.10
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available