P63S (p.Pro63Ser) variant of GATA2 (P23769)
P63S (p.Pro63Ser) 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 0.37 / 1. The record also includes population frequency data and structural context.
P63S (p.Pro63Ser) variant details
- p.Pro63Ser
- cosmic curated COSV10590
- TOPMed rs1240150433
- gnomAD rs1240150433
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.31
- CADD 19.60
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available