Q109R (p.Gln109Arg) variant of ABCC4 (O15439)
Q109R (p.Gln109Arg) in ABCC4 (O15439) is a missense change. Clinical records from ClinVar, EBI, 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 0.62 / 1. The record also includes population frequency data.
Q109R (p.Gln109Arg) variant details
- p.Gln109Arg
- TOPMed rs2039720031
- gnomAD rs2039720031
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.623
- CADD 25.70
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)