Y65S (p.Tyr65Ser) variant of ABCC2 (Q92887)
Y65S (p.Tyr65Ser) in ABCC2 (Q92887) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
Y65S (p.Tyr65Ser) variant details
- p.Tyr65Ser
- ExAC rs766200636
- TOPMed rs766200636
- gnomAD rs766200636
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- CADD 23.90
- PolyPhen-2 0.88
- SIFT 0.41
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available