V35A (p.Val35Ala) variant of CASQ2 (Calsequestrin-2)
V35A (p.Val35Ala) in CASQ2 (Calsequestrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
V35A (p.Val35Ala) variant details
- p.Val35Ala
- TOPMed rs1649204267
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.16
- MetaLR 0.14
- MetaSVM -0.94
- CADD 22.70
- PolyPhen-2 0.04
- SIFT 0.10
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available