G714S (p.Gly714Ser) variant of NTRK1 (P04629)
G714S (p.Gly714Ser) 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 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
G714S (p.Gly714Ser) variant details
- p.Gly714Ser
- rs770727871
- ClinGen CA1169575
- cosmic curated COSV62322
- ClinVar RCV003236469
- Pathogenic
- Hereditary insensitivity to pain with anhidrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.868
- REVEL 0.98
- AlphaMissense 0.95
- MetaLR 0.63
- MetaSVM 0.55
- CADD 31.00
- PolyPhen-2 1.00
- ClinVar: 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 1.8e-06)
- Structural context available
- Cited in: Congenital insensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) gene encoding a high-affinity… (PMID 10330344)
- Cited in: Congenital insensitivity to pain with anhidrosis (CIPA): effect of TRKA (NTRK1) missense mutations on… (PMID 11159935)