C35F (p.Cys35Phe) variant of RYR1 (Ryanodine receptor 1)
C35F (p.Cys35Phe) in RYR1 (Ryanodine receptor 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact in the context of in MHS1. The record also includes variant effect predictions and population frequency data.
C35F (p.Cys35Phe) variant details
- p.Cys35Phe
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- in MHS1
- Missense
- REVEL 0.88
- MetaLR 0.95
- MetaSVM 1.10
- CADD 28.90
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact. (in MHS1)
- Population evidence available