L43V (p.Leu43Val) variant of GATA5 (Transcription factor GATA-5)
L43V (p.Leu43Val) 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 0.52 / 1. The record also includes population frequency data and structural context.
L43V (p.Leu43Val) variant details
- p.Leu43Val
- rs2516447435
- ClinGen CA409557756
- ClinVar RCV003723531
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- REVEL 0.49
- MetaLR 0.95
- MetaSVM 0.92
- CADD 23.80
- PolyPhen-2 0.76
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available