A38A (p.Ala38Ala) variant of RYR1 (Ryanodine receptor 1)
A38A (p.Ala38Ala) in RYR1 (Ryanodine receptor 1) is a synonymous change. The record also includes variant effect predictions, population frequency data, and published literature.
A38A (p.Ala38Ala) variant details
- p.Ala38Ala
- rs150794120
- gnomAD 19-38440813-C-T
- Synonymous
- CADD 1.87
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Cited in: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American… (PMID 25741868)