V715M (p.Val715Met) variant of NTRK1 (P04629)
V715M (p.Val715Met) in NTRK1 (P04629) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary insensitivity to pain with anhidrosis; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
V715M (p.Val715Met) variant details
- p.Val715Met
- rs759190964
- ClinGen CA1169578
- cosmic curated COSV62328
- ClinVar RCV000691409
- Conflicting interpretations
- Hereditary insensitivity to pain with anhidrosis; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.849
- REVEL 0.91
- CADD 28.60
- PolyPhen-2 0.86
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Hereditary insensitivity to pain with anhidrosis; not specified)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available
- Cited in: NTRK1 Congenital Insensitivity to Pain with Anhidrosis. (PMID 20301726)
- Cited in: Congenital Insensitivity to Pain Overview. (PMID 29419974)