V715A (p.Val715Ala) variant of NTRK1 (P04629)
V715A (p.Val715Ala) in NTRK1 (P04629) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Hereditary insensitivity to pain with anhidrosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
V715A (p.Val715Ala) variant details
- p.Val715Ala
- rs1455058410
- ClinVar RCV004586237
- ClinVar RCV005101994
- TOPMed rs1455058410
- Conflicting interpretations
- not specified; Hereditary insensitivity to pain with anhidrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.815
- REVEL 0.95
- CADD 28.40
- PolyPhen-2 0.77
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; Hereditary insensitivity to pain with anhidrosis)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: NTRK1 Congenital Insensitivity to Pain with Anhidrosis. (PMID 20301726)
- Cited in: Congenital Insensitivity to Pain Overview. (PMID 29419974)