V715L (p.Val715Leu) variant of NTRK1 (P04629)
V715L (p.Val715Leu) in NTRK1 (P04629) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hereditary insensitivity to pain with anhidrosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
V715L (p.Val715Leu) variant details
- p.Val715Leu
- rs759190964
- ClinVar RCV004586251
- ExAC rs759190964
- TOPMed rs759190964
- Pathogenic
- Hereditary insensitivity to pain with anhidrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.804
- REVEL 0.88
- CADD 24.30
- PolyPhen-2 0.02
- SIFT 0.04
- ClinVar: Pathogenic (Hereditary insensitivity to pain with anhidrosis)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)