P26R (p.Pro26Arg) variant of GATA5 (Transcription factor GATA-5)
P26R (p.Pro26Arg) in GATA5 (Transcription factor GATA-5) 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 0.62 / 1. The record also includes population frequency data and structural context.
P26R (p.Pro26Arg) variant details
- p.Pro26Arg
- TOPMed rs1989835264
- gnomAD rs1989835264
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- REVEL 0.43
- MetaLR 0.93
- MetaSVM 1.20
- CADD 26.00
- PolyPhen-2 0.92
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available