T25A (p.Thr25Ala) variant of RYR2 (Ryanodine receptor 2)
T25A (p.Thr25Ala) in RYR2 (Ryanodine receptor 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
T25A (p.Thr25Ala) variant details
- p.Thr25Ala
- gnomAD 1-237270521-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.41
- MetaLR 0.85
- MetaSVM 0.68
- CADD 17.00
- PolyPhen-2 0.04
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available