D17Y (p.Asp17Tyr) variant of ABCC1 (P33527)
D17Y (p.Asp17Tyr) in ABCC1 (P33527) 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 0.70 / 1. The record also includes population frequency data and structural context.
D17Y (p.Asp17Tyr) variant details
- p.Asp17Tyr
- rs761719926
- ClinGen CA7923390
- NCI-TCGA Cosmic COSV1005
- ClinVar RCV004213636
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.704
- REVEL 0.61
- CADD 33.00
- PolyPhen-2 0.85
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available