A59V (p.Ala59Val) variant of GATA1 (Erythroid transcription factor)
A59V (p.Ala59Val) in GATA1 (Erythroid transcription factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
A59V (p.Ala59Val) variant details
- p.Ala59Val
- cosmic curated COSV64964
- gnomAD rs1557020056
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.32
- MetaLR 0.81
- MetaSVM 0.13
- CADD 17.60
- PolyPhen-2 0.02
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available