S2T (p.Ser2Thr) variant of WAS (P42768)
S2T (p.Ser2Thr) in WAS (P42768) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
S2T (p.Ser2Thr) variant details
- p.Ser2Thr
- TOPMed rs1216332519
- gnomAD rs1216332519
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.47
- CADD 22.60
- PolyPhen-2 0.18
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 9.8e-05)
- Structural context available