R744P (p.Arg744Pro) variant of NTRK1 (P04629)
R744P (p.Arg744Pro) in NTRK1 (P04629) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hereditary insensitivity to pain with anhidrosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
R744P (p.Arg744Pro) variant details
- p.Arg744Pro
- ExAC rs751281792
- TOPMed rs751281792
- gnomAD rs751281792
- Pathogenic
- Hereditary insensitivity to pain with anhidrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.647
- REVEL 0.72
- CADD 26.10
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (Hereditary insensitivity to pain with anhidrosis)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available