P55L (p.Pro55Leu) variant of GATA5 (Transcription factor GATA-5)
P55L (p.Pro55Leu) 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.
P55L (p.Pro55Leu) variant details
- p.Pro55Leu
- rs1555897041
- ClinGen CA409557607
- ClinVar RCV001883074
- TOPMed rs1555897041
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- REVEL 0.30
- MetaLR 0.85
- MetaSVM 0.39
- CADD 20.30
- PolyPhen-2 0.04
- SIFT 0.20
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available