S2* (p.Ser2Ter) variant of TMC1 (Q8TDI8)
S2* (p.Ser2Ter) in TMC1 (Q8TDI8) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
S2* (p.Ser2Ter) variant details
- p.Ser2Ter
- rs2489587191
- ClinGen CA373722690
- ClinVar RCV003876511
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.852
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available