P31L (p.Pro31Leu) variant of GATA5 (Transcription factor GATA-5)
P31L (p.Pro31Leu) 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 Congenital heart defects, multiple types, 5; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
P31L (p.Pro31Leu) variant details
- p.Pro31Leu
- rs1332121694
- ClinGen CA409557896
- ClinVar RCV002601578
- ClinVar RCV004725321
- Uncertain significance
- Congenital heart defects, multiple types, 5; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.77
- REVEL 0.92
- MetaLR 0.98
- MetaSVM 1.02
- CADD 24.60
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (Congenital heart defects, multiple types, 5; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available