L21F (p.Leu21Phe) variant of FKRP (Q9H9S5)
L21F (p.Leu21Phe) in FKRP (Q9H9S5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
L21F (p.Leu21Phe) variant details
- p.Leu21Phe
- rs2054889669
- ClinGen CA406494585
- ClinVar RCV002366446
- gnomAD rs2054889669
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.26
- CADD 12.60
- PolyPhen-2 0.00
- SIFT 0.12
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available