S55F (p.Ser55Phe) variant of PPP2R5D (Q14738)
S55F (p.Ser55Phe) 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 0.34 / 1. The record also includes structural context.
S55F (p.Ser55Phe) variant details
- p.Ser55Phe
- rs1762090621
- ClinGen CA364179138
- ClinVar RCV002616293
- TOPMed rs1762090621
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- AlphaMissense 0.20
- MetaLR 0.09
- MetaSVM -1.00
- PolyPhen-2 0.41
- SIFT 0.01
- MutPred 0.21
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available