S5G (p.Ser5Gly) variant of WEE1 (Wee1-like protein kinase)
S5G (p.Ser5Gly) 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 0.24 / 1. The record also includes population frequency data and structural context.
S5G (p.Ser5Gly) variant details
- p.Ser5Gly
- rs1490413296
- ClinGen CA379640713
- ClinVar RCV004269670
- gnomAD rs1490413296
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.08
- CADD 22.10
- PolyPhen-2 0.00
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.6e-05)
- Structural context available