T88R (p.Thr88Arg) variant of ABCC2 (Q92887)
T88R (p.Thr88Arg) in ABCC2 (Q92887) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
T88R (p.Thr88Arg) variant details
- p.Thr88Arg
- Ensembl rs1564669915
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- AlphaMissense 0.16
- MetaLR 0.07
- MetaSVM -1.03
- CADD 16.40
- PolyPhen-2 0.21
- SIFT 0.34
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available