A33S (p.Ala33Ser) variant of NTRK1 (P04629)
A33S (p.Ala33Ser) in NTRK1 (P04629) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided; Hereditary insensitivity to pain with anh. 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.
A33S (p.Ala33Ser) variant details
- p.Ala33Ser
- rs777913530
- ClinGen CA1168818
- ClinVar RCV001941402
- ClinVar RCV002386781
- Uncertain significance
- Inborn genetic diseases; not provided; Hereditary insensitivity to pain with anh
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.14
- MetaLR 0.16
- MetaSVM -0.94
- CADD 19.40
- PolyPhen-2 0.17
- SIFT 0.09
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided; Hereditary insensitivity)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available
- Cited in: NTRK1 Congenital Insensitivity to Pain with Anhidrosis. (PMID 20301726)
- Cited in: Congenital Insensitivity to Pain Overview. (PMID 29419974)