T52A (p.Thr52Ala) variant of GATA1 (Erythroid transcription factor)
T52A (p.Thr52Ala) in GATA1 (Erythroid transcription factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
T52A (p.Thr52Ala) variant details
- p.Thr52Ala
- ExAC rs782294292
- gnomAD rs782294292
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.13
- MetaLR 0.67
- MetaSVM -0.17
- CADD 9.59
- PolyPhen-2 0.00
- SIFT 0.50
- Most common in the South Asian population (allele frequency 1.9e-05)
- Structural context available