T45T (p.Thr45Thr) variant of WAS (P42768)
T45T (p.Thr45Thr) in WAS (P42768) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
T45T (p.Thr45Thr) variant details
- p.Thr45Thr
- rs782526978
- gnomAD X-48684285-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.0842
- CADD 0.51
- Most common in the Latino/Admixed American population (allele frequency 0.00019)
- Structural context available
- Literature evidence available