C73S (p.Cys73Ser) variant of WAS (P42768)
C73S (p.Cys73Ser) in WAS (P42768) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Thrombocytopenia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes structural context.
C73S (p.Cys73Ser) variant details
- p.Cys73Ser
- rs1602176652
- ClinGen CA412866501
- ClinVar RCV000852074
- Ensembl rs1602176652
- Uncertain significance
- Thrombocytopenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.922
- AlphaMissense 0.99
- MetaLR 0.97
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.74
- ClinVar: Uncertain significance (Thrombocytopenia)
- EBI: Variant of uncertain significance (in WAS)
- UniProt: Uncertain significance (in WAS)
- Structural context available