G101R (p.Gly101Arg) variant of GATA5 (Transcription factor GATA-5)
G101R (p.Gly101Arg) in GATA5 (Transcription factor GATA-5) is a missense change. Clinical records from ClinVar 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 0.48 / 1. The record also includes population frequency data and structural context.
G101R (p.Gly101Arg) variant details
- p.Gly101Arg
- Ensembl rs1989825119
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.26
- MetaLR 0.93
- MetaSVM 0.70
- CADD 22.50
- PolyPhen-2 0.97
- SIFT 0.56
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available