G53R (p.Gly53Arg) variant of HNF1B (Hepatocyte nuclear factor 1-beta)
G53R (p.Gly53Arg) in HNF1B (Hepatocyte nuclear factor 1-beta) 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 0.79 / 1. The record also includes population frequency data and structural context.
G53R (p.Gly53Arg) variant details
- p.Gly53Arg
- rs2034119580
- ClinGen CA398754209
- ClinVar RCV003011346
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.79
- AlphaMissense 0.28
- MetaLR 0.93
- MetaSVM 1.08
- CADD 28.20
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available