L6F (p.Leu6Phe) variant of CASQ2 (Calsequestrin-2)
L6F (p.Leu6Phe) in CASQ2 (Calsequestrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
L6F (p.Leu6Phe) variant details
- p.Leu6Phe
- ExAC rs762622231
- gnomAD rs762622231
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.53
- MetaLR 0.37
- MetaSVM -0.62
- CADD 23.40
- PolyPhen-2 0.45
- SIFT 0.14
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available