R771C (p.Arg771Cys) variant of NTRK1 (P04629)
R771C (p.Arg771Cys) in NTRK1 (P04629) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; Hereditary insensitivity to pain with anhidrosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
R771C (p.Arg771Cys) variant details
- p.Arg771Cys
- rs1324983370
- ClinGen CA342941665
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10069
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; Hereditary insensitivity to pain with anhidrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.873
- REVEL 0.95
- MetaLR 0.98
- MetaSVM 1.07
- CADD 29.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; Hereditary insensitivity to pain with a)
- EBI: Pathogenic (in CIPA)
- UniProt: Pathogenic (in CIPA)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: A Comprehensive Functional Analysis of NTRK1 Missense Mutations Causing Hereditary Sensory and Autonomic Neuropathy… (PMID 27676246)
- Cited in: A novel NTRK1 mutation associated with congenital insensitivity to pain with anhidrosis. (PMID 10090906)