M1L (p.Met1Leu) variant of WAS (P42768)
M1L (p.Met1Leu) in WAS (P42768) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Wiskott-Aldrich syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs587776742
- ClinGen CA341008
- ClinVar RCV000011869
- Pathogenic
- Wiskott-Aldrich syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.857
- MetaLR 0.94
- MetaSVM 0.97
- PolyPhen-2 0.00
- SIFT 0.00
- MutPred 1.00
- ClinVar: Pathogenic (Wiskott-Aldrich syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: A second-site mutation in the initiation codon of WAS (WASP) results in expansion of subsets of lymphocytes in an… (PMID 16511828)
- Cited in: WAS-Related Disorders. (PMID 20301357)