I123V (p.Ile123Val) variant of CASQ2 (Calsequestrin-2)
I123V (p.Ile123Val) in CASQ2 (Calsequestrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
I123V (p.Ile123Val) variant details
- p.Ile123Val
- ExAC rs754139403
- TOPMed rs754139403
- gnomAD rs754139403
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.22
- MetaLR 0.20
- MetaSVM -0.83
- CADD 18.20
- PolyPhen-2 0.04
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available