A53V (p.Ala53Val) variant of GATA1 (Erythroid transcription factor)
A53V (p.Ala53Val) in GATA1 (Erythroid transcription factor) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
A53V (p.Ala53Val) variant details
- p.Ala53Val
- 1000Genomes rs142614402
- ESP rs142614402
- ExAC rs142614402
- TOPMed rs142614402
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.28
- MetaLR 0.76
- MetaSVM 0.18
- CADD 15.20
- PolyPhen-2 0.14
- SIFT 0.51
- EBI: Benign
- UniProt: Benign
- Most common in the Latino/Admixed American population (allele frequency 8.7e-05)
- Structural context available