A27D (p.Ala27Asp) variant of RYR3 (Ryanodine receptor 3)
A27D (p.Ala27Asp) 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.
A27D (p.Ala27Asp) variant details
- p.Ala27Asp
- rs374964000
- ClinGen CA7457695
- ClinVar RCV001236865
- ESP rs374964000
- Uncertain significance
- Epileptic encephalopathy
- Missense
- MetaLR 0.95
- MetaSVM 1.10
- CADD 24.30
- PolyPhen-2 0.80
- SIFT 0.00
- ClinVar: Uncertain significance (Epileptic encephalopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)