L3V (p.Leu3Val) variant of FKRP (Q9H9S5)
L3V (p.Leu3Val) in FKRP (Q9H9S5) is a missense change. Clinical records from ClinVar 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 0.49 / 1. The record also includes population frequency data and structural context.
L3V (p.Leu3Val) variant details
- p.Leu3Val
- gnomAD rs1329306715
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.46
- CADD 17.60
- PolyPhen-2 0.06
- SIFT 0.67
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available