P16S (p.Pro16Ser) variant of GATA3 (P23771)
P16S (p.Pro16Ser) in GATA3 (P23771) 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.
P16S (p.Pro16Ser) variant details
- p.Pro16Ser
- gnomAD rs1346145007
- Missense
- Variant Prioritization Score for Impact Estimate 0.624
- REVEL 0.54
- MetaLR 0.89
- MetaSVM 0.92
- CADD 22.90
- PolyPhen-2 0.07
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available