S8F (p.Ser8Phe) variant of ABCC2 (Q92887)
S8F (p.Ser8Phe) in ABCC2 (Q92887) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Dubin-Johnson syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
S8F (p.Ser8Phe) variant details
- p.Ser8Phe
- rs375147383
- ClinGen CA5642748
- ClinVar RCV000733111
- ClinVar RCV001103774
- Uncertain significance
- not provided; Dubin-Johnson syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- CADD 24.50
- PolyPhen-2 0.06
- SIFT 0.01
- ClinVar: Uncertain significance (not provided; Dubin-Johnson syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.00015)
- Structural context available