A17P (p.Ala17Pro) variant of GATA3 (P23771)
A17P (p.Ala17Pro) 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, published literature, and structural context.
A17P (p.Ala17Pro) variant details
- p.Ala17Pro
- gnomAD 10-8055704-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.692
- REVEL 0.69
- MetaLR 0.83
- MetaSVM 0.68
- CADD 25.10
- PolyPhen-2 0.08
- SIFT 0.06
- Most common in the African/African-American population (allele frequency 3.1e-05)
- Structural context available
- Literature evidence available