P14L (p.Pro14Leu) variant of GATA2 (P23769)
P14L (p.Pro14Leu) 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 0.65 / 1. The record also includes population frequency data and structural context.
P14L (p.Pro14Leu) variant details
- p.Pro14Leu
- ExAC rs780089207
- gnomAD rs780089207
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- REVEL 0.58
- AlphaMissense 0.35
- MetaLR 0.79
- MetaSVM 0.65
- CADD 24.70
- PolyPhen-2 0.08
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available