G517E (p.Gly517Glu) variant of NTRK1 (P04629)
G517E (p.Gly517Glu) 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 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
G517E (p.Gly517Glu) variant details
- p.Gly517Glu
- rs606231467
- ClinGen CA272998
- ClinVar RCV000148946
- UniProt VAR 077472
- Likely pathogenic
- Hereditary insensitivity to pain with anhidrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.892
- REVEL 0.96
- CADD 28.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Hereditary insensitivity to pain with anhidrosis)
- EBI: Pathogenic (in CIPA)
- UniProt: Pathogenic (in CIPA)
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available
- Cited in: Innate immunity. A Spaetzle-like role for nerve growth factor β in vertebrate immunity to Staphylococcus aureus. (PMID 25359976)
- Cited in: A Comprehensive Functional Analysis of NTRK1 Missense Mutations Causing Hereditary Sensory and Autonomic Neuropathy… (PMID 27676246)