K13E (p.Lys13Glu) variant of PPP2R5D (Q14738)
K13E (p.Lys13Glu) 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 0.38 / 1. The record also includes structural context.
K13E (p.Lys13Glu) variant details
- p.Lys13Glu
- rs1264664886
- ClinGen CA364174637
- ClinVar RCV003026129
- TOPMed rs1264664886
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- AlphaMissense 0.22
- MetaLR 0.22
- MetaSVM -0.97
- PolyPhen-2 0.17
- SIFT 0.01
- MutPred 0.33
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available