R649W (p.Arg649Trp) variant of NTRK1 (P04629)
R649W (p.Arg649Trp) in NTRK1 (P04629) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of NTRK1-related disorder; Hereditary insensitivity to pain with anhidrosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
R649W (p.Arg649Trp) variant details
- p.Arg649Trp
- rs369353892
- ClinGen CA31123437
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV62323
- Pathogenic/Likely pathogenic
- NTRK1-related disorder; Hereditary insensitivity to pain with anhidrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.764
- REVEL 0.85
- CADD 29.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (NTRK1-related disorder; Hereditary insensitivity to pain with an)
- EBI: Pathogenic (in CIPA)
- UniProt: Pathogenic (in CIPA)
- Most common in the South Asian population (allele frequency 0.00044)
- 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)