A15S (p.Ala15Ser) variant of WEE1 (Wee1-like protein kinase)
A15S (p.Ala15Ser) in WEE1 (Wee1-like protein kinase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
A15S (p.Ala15Ser) variant details
- p.Ala15Ser
- TOPMed rs1331216603
- gnomAD rs1331216603
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0863
- REVEL 0.02
- CADD 14.80
- PolyPhen-2 0.00
- SIFT 0.56
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.3e-05)
- Structural context available