G4S (p.Gly4Ser) variant of NTRK1 (P04629)
G4S (p.Gly4Ser) in NTRK1 (P04629) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary insensitivity to pain with anhidrosis; not provided; Inborn genetic d. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
G4S (p.Gly4Ser) variant details
- p.Gly4Ser
- rs556840308
- ClinGen CA10606463
- ClinVar RCV000346219
- ClinVar RCV001085520
- Conflicting interpretations
- Hereditary insensitivity to pain with anhidrosis; not provided; Inborn genetic d
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.14
- MetaLR 0.16
- MetaSVM -0.89
- CADD 22.30
- PolyPhen-2 0.10
- SIFT 0.07
- ClinVar: Conflicting classifications of pathogenicity (Hereditary insensitivity to pain with anhidrosis; not provided;)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Cited in: NTRK1 Congenital Insensitivity to Pain with Anhidrosis. (PMID 20301726)
- Cited in: Congenital Insensitivity to Pain Overview. (PMID 29419974)