E31K (p.Glu31Lys) variant of PPP2R5D (Q14738)
E31K (p.Glu31Lys) 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 0.37 / 1. The record also includes population frequency data and structural context.
E31K (p.Glu31Lys) variant details
- p.Glu31Lys
- rs764794443
- ClinGen CA364175039
- ClinVar RCV001992081
- ExAC rs764794443
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.17
- MetaLR 0.05
- MetaSVM -1.04
- CADD 22.90
- PolyPhen-2 0.04
- SIFT 0.52
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available