V211E (p.Val211Glu) variant of NTRK1 (P04629)
V211E (p.Val211Glu) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes published literature and structural context.
V211E (p.Val211Glu) variant details
- p.Val211Glu
- rs1064793219
- ClinGen CA16617006
- ClinVar RCV000484442
- ClinVar RCV001828497
- Pathogenic/Likely pathogenic
- Hereditary insensitivity to pain with anhidrosis; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- AlphaMissense 0.37
- MetaLR 0.08
- MetaSVM -1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.27
- ClinVar: Pathogenic/Likely pathogenic (Hereditary insensitivity to pain with anhidrosis; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: NTRK1 Congenital Insensitivity to Pain with Anhidrosis. (PMID 20301726)
- Cited in: Congenital Insensitivity to Pain Overview. (PMID 29419974)