Q9* (p.Gln9Ter) variant of NTRK1 (P04629)
Q9* (p.Gln9Ter) in NTRK1 (P04629) 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 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
Q9* (p.Gln9Ter) variant details
- p.Gln9Ter
- rs80356673
- ClinGen CA342988
- ClinVar RCV000030667
- ClinVar RCV000031917
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.703
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Congenital insensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) gene encoding a high-affinity… (PMID 10330344)
- Cited in: Congenital insensitivity to pain with anhidrosis (CIPA): effect of TRKA (NTRK1) missense mutations on… (PMID 11159935)