G18E (p.Gly18Glu) variant of NTRK1 (P04629)
G18E (p.Gly18Glu) in NTRK1 (P04629) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not provided; not specified; Hereditary insensitivity to pain with anhidrosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
G18E (p.Gly18Glu) variant details
- p.Gly18Glu
- rs1007211
- ClinGen CA200337
- cosmic curated COSV62325
- ClinVar RCV000173175
- Benign/Likely benign
- not provided; not specified; Hereditary insensitivity to pain with anhidrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.13
- MetaLR 0.25
- MetaSVM -0.85
- CADD 20.60
- PolyPhen-2 0.11
- SIFT 0.02
- ClinVar: Benign/Likely benign (not provided; not specified; Hereditary insensitivity to pain wi)
- EBI: Benign (in dbSNP:rs1007211)
- UniProt: Benign (in dbSNP:rs1007211)
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available
- Cited in: NTRK1 Congenital Insensitivity to Pain with Anhidrosis. (PMID 20301726)
- Cited in: Congenital Insensitivity to Pain Overview. (PMID 29419974)