Q54P (p.Gln54Pro) variant of GATA5 (Transcription factor GATA-5)
Q54P (p.Gln54Pro) 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 0.50 / 1. The record also includes population frequency data and structural context.
Q54P (p.Gln54Pro) variant details
- p.Gln54Pro
- rs2516447363
- ClinGen CA2580098675
- ClinVar RCV002305370
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- REVEL 0.44
- MetaLR 0.93
- MetaSVM 0.86
- CADD 23.30
- PolyPhen-2 1.00
- SIFT 0.12
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available