R85S (p.Arg85Ser) variant of NTRK1 (P04629)
R85S (p.Arg85Ser) in NTRK1 (P04629) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Hereditary insensitivity to pain with anhidrosis; Inborn genetic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
R85S (p.Arg85Ser) variant details
- p.Arg85Ser
- rs543320028
- ClinGen CA1168867
- ClinVar RCV000013098
- ClinVar RCV000789505
- Conflicting interpretations
- not specified; Hereditary insensitivity to pain with anhidrosis; Inborn genetic
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.52
- MetaLR 0.13
- MetaSVM -0.78
- CADD 0.71
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; Hereditary insensitivity to pain with anhidrosis;)
- EBI: Pathogenic (in dbSNP:rs543320028)
- UniProt: Pathogenic (in dbSNP:rs543320028)
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- 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: Congenital insensitivity to pain with anhidrosis (CIPA): effect of TRKA (NTRK1) missense mutations on… (PMID 11159935)