S30P (p.Ser30Pro) variant of NTRK1 (P04629)
S30P (p.Ser30Pro) in NTRK1 (P04629) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary insensitivity to pain with anhidrosis; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
S30P (p.Ser30Pro) variant details
- p.Ser30Pro
- rs1350547406
- ClinGen CA342929378
- ClinVar RCV000822952
- ClinVar RCV003279115
- Uncertain significance
- Hereditary insensitivity to pain with anhidrosis; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.08
- MetaLR 0.10
- MetaSVM -1.08
- CADD 20.60
- PolyPhen-2 0.00
- SIFT 0.18
- ClinVar: Uncertain significance (Hereditary insensitivity to pain with anhidrosis; Inborn genetic)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available
- Cited in: NTRK1 Congenital Insensitivity to Pain with Anhidrosis. (PMID 20301726)
- Cited in: Congenital Insensitivity to Pain Overview. (PMID 29419974)