M587V (p.Met587Val) variant of NTRK1 (P04629)
M587V (p.Met587Val) 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 0.49 / 1. The record also includes published literature and structural context.
M587V (p.Met587Val) variant details
- p.Met587Val
- rs121964870
- ClinGen CA256300
- ClinVar RCV000013105
- UniProt VAR 009627
- Pathogenic
- Hereditary insensitivity to pain with anhidrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- AlphaMissense 0.42
- MetaLR 0.34
- MetaSVM -0.04
- PolyPhen-2 0.71
- SIFT 0.01
- EVE 0.57
- ClinVar: Pathogenic (Hereditary insensitivity to pain with anhidrosis)
- EBI: Pathogenic (in CIPA)
- UniProt: Pathogenic (in CIPA)
- Structural context available
- Cited in: A novel point mutation affecting the tyrosine kinase domain of the TRKA gene in a family with congenital insensitivity… (PMID 10233776)
- Cited in: The M581V mutation, associated with a mild form of congenital insensitivity to pain with anhidrosis, causes partial… (PMID 12406349)