D674Y (p.Asp674Tyr) variant of NTRK1 (P04629)
D674Y (p.Asp674Tyr) in NTRK1 (P04629) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hereditary insensitivity to pain with anhidrosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
D674Y (p.Asp674Tyr) variant details
- p.Asp674Tyr
- rs80356677
- ClinGen CA341877
- ClinVar RCV000020470
- UniProt VAR 009632
- Pathogenic/Likely pathogenic
- Hereditary insensitivity to pain with anhidrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.78
- REVEL 0.84
- CADD 34.00
- PolyPhen-2 0.88
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Hereditary insensitivity to pain with anhidrosis)
- EBI: Pathogenic (in CIPA)
- UniProt: Pathogenic (in CIPA)
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available
- Cited in: Mutation and polymorphism analysis of the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor… (PMID 10982191)
- Cited in: Congenital insensitivity to pain with anhidrosis (CIPA): effect of TRKA (NTRK1) missense mutations on… (PMID 11159935)