V72I (p.Val72Ile) variant of ABCC2 (Q92887)
V72I (p.Val72Ile) 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. 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.
V72I (p.Val72Ile) variant details
- p.Val72Ile
- rs148791847
- ClinGen CA5642817
- cosmic curated COSV64971
- ClinVar RCV001105715
- Uncertain significance
- Dubin-Johnson syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- CADD 23.00
- PolyPhen-2 0.05
- SIFT 0.43
- ClinVar: Uncertain significance (Dubin-Johnson syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.0002)
- Structural context available