E30V (p.Glu30Val) variant of RYR1 (Ryanodine receptor 1)
E30V (p.Glu30Val) in RYR1 (Ryanodine receptor 1) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The record also includes variant effect predictions, population frequency data, and published literature.
E30V (p.Glu30Val) variant details
- p.Glu30Val
- rs145771708
- ClinGen CA073030
- ClinVar RCV000209972
- ClinVar RCV000351450
- Likely benign
- Missense
- REVEL 0.92
- MetaLR 0.93
- MetaSVM 1.07
- CADD 29.70
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Cited in: Clinical utility gene card for: Multi-minicore disease. (PMID 22009146)
- Cited in: Malignant hyperthermia genetic testing in North America Working Group Meeting. Bethesda, Maryland. September 4-5, 2002. (PMID 14870754)