R58C (p.Arg58Cys) variant of PPP2R5D (Q14738)
R58C (p.Arg58Cys) 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 0.39 / 1. The record also includes population frequency data and structural context.
R58C (p.Arg58Cys) variant details
- p.Arg58Cys
- rs1394527818
- ClinGen CA364179301
- ClinVar RCV001988485
- TOPMed rs1394527818
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.10
- CADD 27.30
- PolyPhen-2 0.54
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available