A25P (p.Ala25Pro) variant of RYR1 (Ryanodine receptor 1)
A25P (p.Ala25Pro) in RYR1 (Ryanodine receptor 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Inborn genetic diseases. The record also includes variant effect predictions and population frequency data.
A25P (p.Ala25Pro) variant details
- p.Ala25Pro
- ExAC rs778758225
- TOPMed rs778758225
- gnomAD rs778758225
- Uncertain significance
- not provided; Inborn genetic diseases
- Missense
- REVEL 0.86
- MetaLR 0.95
- MetaSVM 1.06
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (not provided; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)