A4T (p.Ala4Thr) variant of RYR1 (Ryanodine receptor 1)
A4T (p.Ala4Thr) 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.
A4T (p.Ala4Thr) variant details
- p.Ala4Thr
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10061
- Variant assessed as somatic; moderate impact.
- Missense
- REVEL 0.40
- MetaLR 0.78
- MetaSVM 0.32
- CADD 24.10
- PolyPhen-2 0.44
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)