T111P (p.Thr111Pro) variant of WAS (P42768)
T111P (p.Thr111Pro) in WAS (P42768) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Wiskott-Aldrich syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
T111P (p.Thr111Pro) variant details
- p.Thr111Pro
- Ensembl rs2147263702
- Likely pathogenic
- Wiskott-Aldrich syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- REVEL 0.68
- CADD 23.00
- PolyPhen-2 0.84
- SIFT 0.10
- ClinVar: Likely pathogenic (Wiskott-Aldrich syndrome)
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available