A27T (p.Ala27Thr) variant of RYR3 (Ryanodine receptor 3)
A27T (p.Ala27Thr) 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.
A27T (p.Ala27Thr) variant details
- p.Ala27Thr
- rs201612485
- ClinGen CA7457694
- NCI-TCGA Cosmic COSV6678
- cosmic curated COSV66780
- Uncertain significance
- Epileptic encephalopathy
- Missense
- MetaLR 0.88
- MetaSVM 0.81
- CADD 18.90
- PolyPhen-2 0.20
- SIFT 0.06
- ClinVar: Uncertain significance (Epileptic encephalopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GIH population (allele frequency 0.005)