L213P (p.Leu213Pro) variant of NTRK1 (P04629)
L213P (p.Leu213Pro) in NTRK1 (P04629) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic 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 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
L213P (p.Leu213Pro) variant details
- p.Leu213Pro
- rs747711259
- ClinGen CA1169061
- ClinVar RCV000631337
- ClinVar RCV000790288
- Pathogenic/Likely pathogenic
- Hereditary insensitivity to pain with anhidrosis; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- REVEL 0.48
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Hereditary insensitivity to pain with anhidrosis; Inborn genetic)
- EBI: Pathogenic (in CIPA)
- UniProt: Pathogenic (in CIPA)
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- 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)