K76T (p.Lys76Thr) variant of WAS (P42768)
K76T (p.Lys76Thr) in WAS (P42768) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Thrombocytopenia 1; Wiskott-Aldrich syndrome; X-linked severe congenital neutrop. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes population frequency data, published literature, and structural context.
K76T (p.Lys76Thr) variant details
- p.Lys76Thr
- rs782350319
- ClinGen CA10403871
- ClinVar RCV001348441
- ExAC rs782350319
- Uncertain significance
- Thrombocytopenia 1; Wiskott-Aldrich syndrome; X-linked severe congenital neutrop
- Missense
- Variant Prioritization Score for Impact Estimate 0.926
- AlphaMissense 0.98
- MetaLR 0.97
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.78
- ClinVar: Uncertain significance (Thrombocytopenia 1; Wiskott-Aldrich syndrome; X-linked severe co)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: WAS-Related Disorders. (PMID 20301357)