K104T (p.Lys104Thr) variant of CASQ2 (Calsequestrin-2)
K104T (p.Lys104Thr) 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 specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
K104T (p.Lys104Thr) variant details
- p.Lys104Thr
- rs781062859
- ClinGen CA1023957
- ClinVar RCV000611121
- ExAC rs781062859
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.665
- REVEL 0.76
- MetaLR 0.59
- MetaSVM 0.26
- CADD 28.20
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available