T65N (p.Thr65Asn) variant of WAS (P42768)
T65N (p.Thr65Asn) 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 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
T65N (p.Thr65Asn) variant details
- p.Thr65Asn
- rs797044478
- ClinGen CA412866379
- ClinVar RCV003809552
- Ensembl rs797044478
- Uncertain significance
- Thrombocytopenia 1; Wiskott-Aldrich syndrome; X-linked severe congenital neutrop
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- REVEL 0.43
- CADD 19.80
- PolyPhen-2 0.18
- SIFT 0.19
- ClinVar: Uncertain significance (Thrombocytopenia 1; Wiskott-Aldrich syndrome; X-linked severe co)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Cited in: WAS-Related Disorders. (PMID 20301357)