R44Q (p.Arg44Gln) variant of TMC1 (Q8TDI8)
R44Q (p.Arg44Gln) in TMC1 (Q8TDI8) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; TMC1-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
R44Q (p.Arg44Gln) variant details
- p.Arg44Gln
- cosmic curated COSV10440
- 1000Genomes rs572854741
- ExAC rs572854741
- TOPMed rs572854741
- Uncertain significance
- not provided; TMC1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.36
- CADD 23.20
- PolyPhen-2 0.37
- SIFT 0.05
- ClinVar: Uncertain significance (not provided; TMC1-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CDX population (allele frequency 0.0057)
- Structural context available