L146F (p.Leu146Phe) variant of ABCC4 (O15439)
L146F (p.Leu146Phe) 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 0.33 / 1. The record also includes population frequency data.
L146F (p.Leu146Phe) variant details
- p.Leu146Phe
- TOPMed rs1430939668
- gnomAD rs1430939668
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- CADD 15.60
- PolyPhen-2 0.06
- SIFT 0.31
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.2e-05)