P50S (p.Pro50Ser) variant of RYR1 (Ryanodine receptor 1)
P50S (p.Pro50Ser) in RYR1 (Ryanodine receptor 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes variant effect predictions and population frequency data.
P50S (p.Pro50Ser) variant details
- p.Pro50Ser
- rs1440528234
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10061
- Variant assessed as somatic; moderate impact.
- Missense
- REVEL 0.50
- MetaLR 0.79
- MetaSVM 0.58
- CADD 22.80
- PolyPhen-2 0.45
- SIFT 0.91
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)