G613V (p.Gly613Val) variant of NTRK1 (P04629)
G613V (p.Gly613Val) 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 specified; not provided; Hereditary insensitivity to pain with anhidrosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
G613V (p.Gly613Val) variant details
- p.Gly613Val
- rs6339
- ClinGen CA256281
- cosmic curated COSV62324
- ClinVar RCV000013101
- Benign/Likely benign
- not specified; not provided; Hereditary insensitivity to pain with anhidrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- REVEL 0.34
- CADD 21.00
- PolyPhen-2 0.13
- SIFT 0.06
- ClinVar: Benign/Likely benign (not specified; not provided; Hereditary insensitivity to pain wi)
- EBI: Pathogenic (in dbSNP:rs6339)
- UniProt: Pathogenic (in dbSNP:rs6339)
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- 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)