G724S (p.Gly724Ser) variant of NTRK1 (P04629)
G724S (p.Gly724Ser) in NTRK1 (P04629) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hereditary insensitivity to pain with anhidrosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
G724S (p.Gly724Ser) variant details
- p.Gly724Ser
- rs763122825
- ClinGen CA1169583
- cosmic curated COSV10591
- ClinVar RCV001030785
- Pathogenic/Likely pathogenic
- Hereditary insensitivity to pain with anhidrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.873
- REVEL 0.94
- CADD 29.40
- PolyPhen-2 0.95
- SIFT 0.03
- ClinVar: Pathogenic/Likely pathogenic (Hereditary insensitivity to pain with anhidrosis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available
- Cited in: NTRK1 Congenital Insensitivity to Pain with Anhidrosis. (PMID 20301726)
- Cited in: Congenital Insensitivity to Pain Overview. (PMID 29419974)