S24T (p.Ser24Thr) variant of RYR1 (Ryanodine receptor 1)
S24T (p.Ser24Thr) in RYR1 (Ryanodine receptor 1) is a missense change. The record also includes variant effect predictions, population frequency data, and published literature.
S24T (p.Ser24Thr) variant details
- p.Ser24Thr
- gnomAD 19-38440770-G-C
- Missense
- REVEL 0.29
- MetaLR 0.71
- MetaSVM 0.05
- CADD 1.71
- PolyPhen-2 0.09
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Literature evidence available