H604Y (p.His604Tyr) variant of NTRK1 (P04629)
H604Y (p.His604Tyr) 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 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
H604Y (p.His604Tyr) variant details
- p.His604Tyr
- rs6336
- ClinGen CA256274
- cosmic curated COSV62324
- ClinVar RCV000013100
- Benign/Likely benign
- not provided; not specified; Hereditary insensitivity to pain with anhidrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- REVEL 0.72
- CADD 25.30
- PolyPhen-2 0.81
- SIFT 0.00
- ClinVar: Benign/Likely benign (not provided; not specified; Hereditary insensitivity to pain wi)
- EBI: Pathogenic (in dbSNP:rs6336)
- UniProt: Pathogenic (in dbSNP:rs6336)
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- 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: Characterization of single-nucleotide polymorphisms in coding regions of human genes. (PMID 10391209)