P60S (p.Pro60Ser) variant of RYR3 (Ryanodine receptor 3)
P60S (p.Pro60Ser) in RYR3 (Ryanodine receptor 3) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes variant effect predictions and population frequency data.
P60S (p.Pro60Ser) variant details
- p.Pro60Ser
- gnomAD rs1395303451
- Uncertain significance
- Missense
- MetaLR 0.97
- MetaSVM 1.09
- CADD 25.50
- PolyPhen-2 0.90
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)