S12G (p.Ser12Gly) variant of GATA3 (P23771)
S12G (p.Ser12Gly) in GATA3 (P23771) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
S12G (p.Ser12Gly) variant details
- p.Ser12Gly
- Ensembl rs2131482217
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- REVEL 0.43
- MetaLR 0.85
- MetaSVM 0.77
- CADD 24.90
- PolyPhen-2 0.28
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available