Q69P (p.Gln69Pro) variant of ABCC2 (Q92887)
Q69P (p.Gln69Pro) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
Q69P (p.Gln69Pro) variant details
- p.Gln69Pro
- rs145427140
- ClinGen CA5642800
- ClinVar RCV000728428
- 1000Genomes rs145427140
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.682
- CADD 31.00
- PolyPhen-2 0.69
- SIFT 0.20
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.0063)
- Structural context available