R6W (p.Arg6Trp) variant of NTRK1 (P04629)
R6W (p.Arg6Trp) in NTRK1 (P04629) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
R6W (p.Arg6Trp) variant details
- p.Arg6Trp
- rs201472270
- ClinGen CA1168813
- cosmic curated COSV62328
- ClinVar RCV000220958
- Conflicting interpretations
- Inborn genetic diseases; not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.35
- MetaLR 0.34
- MetaSVM -0.60
- CADD 24.40
- PolyPhen-2 0.45
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not specified; not provided)
- EBI: Benign (in dbSNP:rs201472270)
- UniProt: Benign (in dbSNP:rs201472270)
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Cited in: Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort. (PMID 22302274)
- Cited in: NTRK1 Congenital Insensitivity to Pain with Anhidrosis. (PMID 20301726)