G5S (p.Gly5Ser) variant of RYR2 (Ryanodine receptor 2)
G5S (p.Gly5Ser) in RYR2 (Ryanodine receptor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
G5S (p.Gly5Ser) variant details
- p.Gly5Ser
- gnomAD 1-237042534-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- REVEL 0.48
- MetaLR 0.82
- MetaSVM 0.70
- CADD 24.00
- PolyPhen-2 0.18
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available