L28H (p.Leu28His) variant of RYR1 (Ryanodine receptor 1)
L28H (p.Leu28His) in RYR1 (Ryanodine receptor 1) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
L28H (p.Leu28His) variant details
- p.Leu28His
- gnomAD 19-38440782-T-A
- Missense
- REVEL 0.54
- MetaLR 0.82
- MetaSVM 0.59
- CADD 22.70
- PolyPhen-2 0.32
- SIFT 0.34
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Literature evidence available