H5D (p.His5Asp) variant of CASQ2 (Calsequestrin-2)
H5D (p.His5Asp) in CASQ2 (Calsequestrin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
H5D (p.His5Asp) variant details
- p.His5Asp
- rs1649206958
- ClinGen CA341767452
- ClinVar RCV001757860
- Ensembl rs1649206958
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.33
- MetaLR 0.09
- MetaSVM -1.07
- CADD 18.70
- PolyPhen-2 0.06
- SIFT 0.20
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available