I28T (p.Ile28Thr) variant of RYR2 (Ryanodine receptor 2)
I28T (p.Ile28Thr) 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.
I28T (p.Ile28Thr) variant details
- p.Ile28Thr
- gnomAD 1-237270531-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- REVEL 0.49
- MetaLR 0.87
- MetaSVM 0.86
- CADD 19.50
- PolyPhen-2 0.00
- SIFT 0.29
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available
- Literature evidence available