S50F (p.Ser50Phe) variant of PPP2R5D (Q14738)
S50F (p.Ser50Phe) 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 0.31 / 1. The record also includes structural context.
S50F (p.Ser50Phe) variant details
- p.Ser50Phe
- rs2150277755
- ClinGen CA364178906
- ClinVar RCV001996566
- Ensembl rs2150277755
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- AlphaMissense 0.14
- MetaLR 0.05
- MetaSVM -1.09
- PolyPhen-2 0.09
- SIFT 0.05
- MutPred 0.26
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available