A24S (p.Ala24Ser) variant of NTRK1 (P04629)
A24S (p.Ala24Ser) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
A24S (p.Ala24Ser) variant details
- p.Ala24Ser
- rs886337406
- ClinGen CA31101047
- ClinVar RCV001929486
- TOPMed rs886337406
- Uncertain significance
- Hereditary insensitivity to pain with anhidrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.192
- REVEL 0.05
- MetaLR 0.10
- MetaSVM -1.01
- CADD 18.60
- PolyPhen-2 0.01
- SIFT 0.12
- ClinVar: Uncertain significance (Hereditary insensitivity to pain with anhidrosis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Cited in: NTRK1 Congenital Insensitivity to Pain with Anhidrosis. (PMID 20301726)
- Cited in: Congenital Insensitivity to Pain Overview. (PMID 29419974)