G577R (p.Gly577Arg) variant of NTRK1 (P04629)
G577R (p.Gly577Arg) 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 0.84 / 1. The record also includes published literature and structural context.
G577R (p.Gly577Arg) variant details
- p.Gly577Arg
- rs121964866
- ClinGen CA256262
- ClinVar RCV000013096
- UniProt VAR 004103
- Likely pathogenic
- Hereditary insensitivity to pain with anhidrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.838
- AlphaMissense 1.00
- MetaLR 0.85
- MetaSVM 0.89
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.64
- ClinVar: Likely pathogenic (Hereditary insensitivity to pain with anhidrosis)
- EBI: Pathogenic (in CIPA)
- UniProt: Pathogenic (in CIPA)
- Structural context available
- Cited in: The Gly571Arg mutation, associated with the autonomic and sensory disorder congenital insensitivity to pain with… (PMID 10567924)
- Cited in: Mutation and polymorphism analysis of the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor… (PMID 10982191)