S2G (p.Ser2Gly) variant of AKT1 (P31749)
S2G (p.Ser2Gly) in AKT1 (P31749) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cowden syndrome 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1.
S2G (p.Ser2Gly) variant details
- p.Ser2Gly
- rs1566826869
- ClinGen CA391223990
- ClinVar RCV000688933
- Ensembl rs1566826869
- Uncertain significance
- Cowden syndrome 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- AlphaMissense 0.07
- MetaLR 0.21
- MetaSVM -0.81
- PolyPhen-2 0.01
- SIFT 0.02
- MutPred 0.30
- ClinVar: Uncertain significance (Cowden syndrome 6)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance