R780P (p.Arg780Pro) variant of NTRK1 (P04629)
R780P (p.Arg780Pro) 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 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
R780P (p.Arg780Pro) variant details
- p.Arg780Pro
- rs35669708
- ClinGen CA256268
- ClinVar RCV000013097
- UniProt VAR 009635
- Pathogenic
- Hereditary insensitivity to pain with anhidrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- REVEL 0.56
- MetaLR 0.53
- MetaSVM -0.35
- CADD 22.50
- PolyPhen-2 0.63
- SIFT 0.01
- ClinVar: 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: A novel NTRK1 mutation associated with congenital insensitivity to pain with anhidrosis. (PMID 10090906)
- Cited in: A novel point mutation affecting the tyrosine kinase domain of the TRKA gene in a family with congenital insensitivity… (PMID 10233776)