V66E (p.Val66Glu) variant of COMP (P49747)
V66E (p.Val66Glu) in COMP (P49747) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Carpal tunnel syndrome 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes published literature and structural context.
V66E (p.Val66Glu) variant details
- p.Val66Glu
- rs2055205599
- ClinGen CA404899318
- ClinVar RCV001289466
- UniProt VAR 085230
- Pathogenic
- Carpal tunnel syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- ESM-1b 1.00
- AlphaMissense 0.96
- MetaLR 0.16
- MetaSVM -0.86
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (Carpal tunnel syndrome 2)
- EBI: Pathogenic (in CTS2)
- UniProt: Pathogenic (in CTS2)
- Structural context available
- Cited in: Mutations in COMP cause familial carpal tunnel syndrome. (PMID 32686688)