V16L (p.Val16Leu) variant of GATA2 (P23769)
V16L (p.Val16Leu) in GATA2 (P23769) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
V16L (p.Val16Leu) variant details
- p.Val16Leu
- ExAC rs781485787
- TOPMed rs781485787
- gnomAD rs781485787
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.589
- REVEL 0.56
- CADD 22.50
- PolyPhen-2 0.03
- SIFT 0.40
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available