L700P (p.Leu700Pro) variant of NTRK1 (P04629)
L700P (p.Leu700Pro) 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 0.57 / 1. The record also includes published literature and structural context.
L700P (p.Leu700Pro) variant details
- p.Leu700Pro
- rs2102927340
- ClinGen CA342940356
- ClinVar RCV004527536
- UniProt VAR 079406
- Likely pathogenic
- Hereditary insensitivity to pain with anhidrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.57
- AlphaMissense 0.96
- MetaLR 0.61
- MetaSVM 0.33
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.27
- ClinVar: Likely pathogenic (Hereditary insensitivity to pain with anhidrosis)
- EBI: Pathogenic (in CIPA)
- UniProt: Pathogenic (in CIPA)
- Structural context available
- Cited in: Exome sequencing identifies novel NTRK1 mutations in patients with HSAN-IV phenotype. (PMID 28328124)
- Cited in: A novel NTRK1 mutation associated with congenital insensitivity to pain with anhidrosis. (PMID 10090906)