L51F (p.Leu51Phe) variant of CASQ2 (Calsequestrin-2)
L51F (p.Leu51Phe) in CASQ2 (Calsequestrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
L51F (p.Leu51Phe) variant details
- p.Leu51Phe
- TOPMed rs1170202728
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.28
- MetaLR 0.37
- MetaSVM -0.52
- CADD 25.90
- PolyPhen-2 0.84
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available