F63L (p.Phe63Leu) variant of ABCC4 (O15439)
F63L (p.Phe63Leu) in ABCC4 (O15439) is a missense change. Clinical records from ClinVar 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 0.31 / 1. The record also includes population frequency data.
F63L (p.Phe63Leu) variant details
- p.Phe63Leu
- TOPMed rs2040125311
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- CADD 21.60
- PolyPhen-2 0.00
- SIFT 0.22
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.3e-05)