L5V (p.Leu5Val) variant of GATA5 (Transcription factor GATA-5)
L5V (p.Leu5Val) 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; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
L5V (p.Leu5Val) variant details
- p.Leu5Val
- rs1324253640
- ClinGen CA409558117
- ClinVar RCV003669376
- ClinVar RCV004324806
- Uncertain significance
- not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.50
- MetaLR 0.91
- MetaSVM 0.86
- CADD 21.40
- PolyPhen-2 0.31
- SIFT 0.05
- ClinVar: Uncertain significance (not provided; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available