I28I (p.Ile28Ile) variant of RYR2 (Ryanodine receptor 2)
I28I (p.Ile28Ile) in RYR2 (Ryanodine receptor 2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
I28I (p.Ile28Ile) variant details
- p.Ile28Ile
- rs1444362826
- gnomAD 1-237270532-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.396
- AlphaMissense 0.08
- MetaLR 0.86
- MetaSVM 0.74
- CADD 9.42
- PolyPhen-2 0.07
- SIFT 0.11
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available
- Literature evidence available