P16T (p.Pro16Thr) variant of GATA3 (P23771)
P16T (p.Pro16Thr) in GATA3 (P23771) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
P16T (p.Pro16Thr) variant details
- p.Pro16Thr
- gnomAD rs1346145007
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- REVEL 0.65
- MetaLR 0.92
- MetaSVM 1.01
- CADD 23.90
- PolyPhen-2 0.36
- SIFT 0.10
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available