W210C (p.Trp210Cys) variant of MRE11 (P49959)
W210C (p.Trp210Cys) in MRE11 (P49959) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Ataxia-telangiectasia-like disorder 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
W210C (p.Trp210Cys) variant details
- p.Trp210Cys
- rs137852763
- ClinGen CA119930
- ClinVar RCV000009331
- ClinVar RCV000712327
- Pathogenic/Likely pathogenic
- not provided; Ataxia-telangiectasia-like disorder 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.849
- AlphaMissense 0.93
- MetaLR 0.80
- MetaSVM 0.73
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.94
- ClinVar: Pathogenic/Likely pathogenic (not provided; Ataxia-telangiectasia-like disorder 1)
- EBI: Pathogenic (in ATLD1)
- UniProt: Pathogenic (in ATLD1)
- Structural context available
- Cited in: Identification and functional consequences of a novel MRE11 mutation affecting 10 Saudi Arabian patients with the… (PMID 15574463)
- Cited in: EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. (PMID 20050888)