P24T (p.Pro24Thr) variant of GATA3 (P23771)
P24T (p.Pro24Thr) in GATA3 (P23771) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
P24T (p.Pro24Thr) variant details
- p.Pro24Thr
- gnomAD 10-8055725-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- REVEL 0.50
- MetaLR 0.86
- MetaSVM 0.67
- CADD 23.60
- PolyPhen-2 0.05
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available