P26L (p.Pro26Leu) variant of CASQ2 (Calsequestrin-2)
P26L (p.Pro26Leu) in CASQ2 (Calsequestrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
P26L (p.Pro26Leu) variant details
- p.Pro26Leu
- ExAC rs760629090
- TOPMed rs760629090
- gnomAD rs760629090
- Missense
- Variant Prioritization Score for Impact Estimate 0.856
- REVEL 0.92
- MetaLR 0.70
- MetaSVM 0.53
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available