L138P (p.Leu138Pro) variant of CASQ2 (Calsequestrin-2)
L138P (p.Leu138Pro) in CASQ2 (Calsequestrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
L138P (p.Leu138Pro) variant details
- p.Leu138Pro
- ExAC rs769333253
- gnomAD rs769333253
- Missense
- Variant Prioritization Score for Impact Estimate 0.613
- REVEL 0.66
- MetaLR 0.28
- MetaSVM -0.41
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available