R34* (p.Arg34Ter) variant of TMC1 (Q8TDI8)
R34* (p.Arg34Ter) 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 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
R34* (p.Arg34Ter) variant details
- p.Arg34Ter
- rs121908073
- ClinGen CA253002
- NCI-TCGA Cosmic COSV9991
- cosmic curated COSV99918
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.406
- CADD 34.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- Structural context available
- Cited in: Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function. (PMID 11850618)
- Cited in: Identities, frequencies and origins of TMC1 mutations causing DFNB7/B11 deafness in Pakistan. (PMID 17877751)