K31R (p.Lys31Arg) variant of CASQ2 (Calsequestrin-2)
K31R (p.Lys31Arg) 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.
K31R (p.Lys31Arg) variant details
- p.Lys31Arg
- ExAC rs748382465
- gnomAD rs748382465
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.13
- MetaLR 0.07
- MetaSVM -1.05
- CADD 23.10
- PolyPhen-2 0.16
- SIFT 0.05
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available