P60A (p.Pro60Ala) variant of RYR3 (Ryanodine receptor 3)
P60A (p.Pro60Ala) in RYR3 (Ryanodine receptor 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Epileptic encephalopathy. The record also includes variant effect predictions and population frequency data.
P60A (p.Pro60Ala) variant details
- p.Pro60Ala
- rs1395303451
- ClinGen CA391567016
- ClinVar RCV001371975
- gnomAD rs1395303451
- Uncertain significance
- Epileptic encephalopathy
- Missense
- MetaLR 0.97
- MetaSVM 1.09
- CADD 24.40
- PolyPhen-2 0.69
- SIFT 0.00
- ClinVar: Uncertain significance (Epileptic encephalopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)