R58H (p.Arg58His) variant of PPP2R5D (Q14738)
R58H (p.Arg58His) in PPP2R5D (Q14738) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
R58H (p.Arg58His) variant details
- p.Arg58His
- rs769440183
- ClinGen CA3811768
- cosmic curated COSV57840
- ClinVar RCV002012301
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.09
- CADD 25.00
- PolyPhen-2 0.47
- SIFT 0.05
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available