L28P (p.Leu28Pro) variant of RYR1 (Ryanodine receptor 1)
L28P (p.Leu28Pro) in RYR1 (Ryanodine receptor 1) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
L28P (p.Leu28Pro) variant details
- p.Leu28Pro
- gnomAD 19-38440782-T-C
- Missense
- REVEL 0.62
- MetaLR 0.89
- MetaSVM 0.74
- CADD 24.10
- PolyPhen-2 0.98
- SIFT 0.21
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Literature evidence available