P8T (p.Pro8Thr) variant of GATA2 (P23769)
P8T (p.Pro8Thr) in GATA2 (P23769) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
P8T (p.Pro8Thr) variant details
- p.Pro8Thr
- ExAC rs772886955
- TOPMed rs772886955
- gnomAD rs772886955
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- REVEL 0.62
- CADD 22.60
- PolyPhen-2 0.21
- SIFT 0.12
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available