F7L (p.Phe7Leu) variant of CASQ2 (Calsequestrin-2)
F7L (p.Phe7Leu) in CASQ2 (Calsequestrin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Cardiovascular phenotype; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
F7L (p.Phe7Leu) variant details
- p.Phe7Leu
- rs727502911
- ClinGen CA175384
- ClinVar RCV000150232
- ClinVar RCV005791818
- Likely benign
- Cardiovascular phenotype; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.13
- MetaLR 0.03
- MetaSVM -1.01
- CADD 16.50
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Likely benign (Cardiovascular phenotype; not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available