S62G (p.Ser62Gly) variant of PPP2R5D (Q14738)
S62G (p.Ser62Gly) in PPP2R5D (Q14738) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes structural context.
S62G (p.Ser62Gly) variant details
- p.Ser62Gly
- rs1038667663
- ClinGen CA364179505
- ClinVar RCV001767872
- TOPMed rs1038667663
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- AlphaMissense 0.12
- MetaLR 0.05
- MetaSVM -1.08
- PolyPhen-2 0.01
- SIFT 0.26
- MutPred 0.13
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available