L18F (p.Leu18Phe) variant of FKRP (Q9H9S5)
L18F (p.Leu18Phe) in FKRP (Q9H9S5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Walker-Warburg congenital muscular dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
L18F (p.Leu18Phe) variant details
- p.Leu18Phe
- rs1226848053
- ClinGen CA406494568
- ClinVar RCV000658156
- ClinVar RCV001050758
- Uncertain significance
- not provided; Walker-Warburg congenital muscular dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- REVEL 0.56
- CADD 23.50
- PolyPhen-2 0.84
- SIFT 0.12
- ClinVar: Uncertain significance (not provided; Walker-Warburg congenital muscular dystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available