H81P (p.His81Pro) variant of GATA5 (Transcription factor GATA-5)
H81P (p.His81Pro) 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; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
H81P (p.His81Pro) variant details
- p.His81Pro
- rs1459727785
- ClinGen CA409557236
- ClinVar RCV001984909
- ClinVar RCV005834125
- Uncertain significance
- not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.46
- AlphaMissense 0.12
- MetaLR 0.88
- MetaSVM 0.69
- CADD 20.00
- PolyPhen-2 0.99
- ClinVar: Uncertain significance (not provided; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available