R28S (p.Arg28Ser) variant of ACTN2 (Alpha-actinin-2)
R28S (p.Arg28Ser) in ACTN2 (Alpha-actinin-2) 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 0.50 / 1. The record also includes population frequency data and structural context.
R28S (p.Arg28Ser) variant details
- p.Arg28Ser
- rs730880040
- ClinGen CA345358324
- ClinVar RCV002244439
- gnomAD rs730880040
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.41
- CADD 24.70
- PolyPhen-2 0.02
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available