P19L (p.Pro19Leu) variant of ABCC2 (Q92887)
P19L (p.Pro19Leu) in ABCC2 (Q92887) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Dubin-Johnson syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data.
P19L (p.Pro19Leu) variant details
- p.Pro19Leu
- rs141278106
- ClinGen CA5642767
- cosmic curated COSV10943
- ClinVar RCV001103776
- Uncertain significance
- Dubin-Johnson syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- CADD 21.50
- PolyPhen-2 0.22
- SIFT 0.02
- ClinVar: Uncertain significance (Dubin-Johnson syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.00019)