P5R (p.Pro5Arg) variant of GATA2 (P23769)
P5R (p.Pro5Arg) in GATA2 (P23769) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Deafness-lymphedema-leukemia syndrome; Monocytopenia wi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
P5R (p.Pro5Arg) variant details
- p.Pro5Arg
- ExAC rs17851306
- gnomAD rs17851306
- Uncertain significance
- Inborn genetic diseases; Deafness-lymphedema-leukemia syndrome; Monocytopenia wi
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- REVEL 0.45
- CADD 26.10
- PolyPhen-2 0.08
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases; Deafness-lymphedema-leukemia syndrome;)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 4.8e-05)
- Structural context available