T17I (p.Thr17Ile) variant of RYR3 (Ryanodine receptor 3)
T17I (p.Thr17Ile) in RYR3 (Ryanodine receptor 3) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes variant effect predictions.
T17I (p.Thr17Ile) variant details
- p.Thr17Ile
- rs1291166318
- NCI-TCGA Cosmic COSV6681
- cosmic curated COSV66811
- gnomAD rs1291166318
- Variant assessed as somatic; moderate impact.
- Missense
- AlphaMissense 0.96
- MetaLR 0.90
- MetaSVM 0.47
- PolyPhen-2 0.24
- SIFT 0.00
- MutPred 0.54
- UniProt: Variant assessed as somatic; moderate impact.