Y49H (p.Tyr49His) variant of CASQ2 (Calsequestrin-2)
Y49H (p.Tyr49His) in CASQ2 (Calsequestrin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
Y49H (p.Tyr49His) variant details
- p.Tyr49His
- ExAC rs757893573
- gnomAD rs757893573
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.37
- MetaLR 0.20
- MetaSVM -0.88
- CADD 23.30
- PolyPhen-2 0.24
- SIFT 0.23
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available