L37I (p.Leu37Ile) variant of CASQ2 (Calsequestrin-2)
L37I (p.Leu37Ile) in CASQ2 (Calsequestrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
L37I (p.Leu37Ile) variant details
- p.Leu37Ile
- gnomAD rs1649204089
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.13
- MetaLR 0.15
- MetaSVM -0.88
- CADD 21.90
- PolyPhen-2 0.03
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available