E31Q (p.Glu31Gln) variant of PPP2R5D (Q14738)
E31Q (p.Glu31Gln) in PPP2R5D (Q14738) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
E31Q (p.Glu31Gln) variant details
- p.Glu31Gln
- ExAC rs764794443
- TOPMed rs764794443
- gnomAD rs764794443
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.23
- MetaLR 0.07
- MetaSVM -1.03
- CADD 22.80
- PolyPhen-2 0.17
- SIFT 1.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.1e-06)
- Structural context available