H81R (p.His81Arg) variant of GATA5 (Transcription factor GATA-5)
H81R (p.His81Arg) in GATA5 (Transcription factor GATA-5) 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 0.64 / 1. The record also includes structural context.
H81R (p.His81Arg) variant details
- p.His81Arg
- rs1459727785
- ClinGen CA409557233
- ClinVar RCV001935588
- gnomAD rs1459727785
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.644
- AlphaMissense 0.12
- MetaLR 0.88
- MetaSVM 0.69
- PolyPhen-2 0.99
- SIFT 0.13
- EVE 0.37
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available