R686H (p.Arg686His) variant of NTRK1 (P04629)
R686H (p.Arg686His) in NTRK1 (P04629) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary insensitivity to pain with anhidrosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
R686H (p.Arg686His) variant details
- p.Arg686His
- rs754452975
- ClinGen CA240459
- cosmic curated COSV62325
- ClinVar RCV000174855
- Likely pathogenic
- Hereditary insensitivity to pain with anhidrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.42
- CADD 18.50
- PolyPhen-2 0.10
- SIFT 1.00
- ClinVar: Likely pathogenic (Hereditary insensitivity to pain with anhidrosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available
- Cited in: NTRK1 Congenital Insensitivity to Pain with Anhidrosis. (PMID 20301726)
- Cited in: Congenital Insensitivity to Pain Overview. (PMID 29419974)