V74L (p.Val74Leu) variant of GATA1 (Erythroid transcription factor)
V74L (p.Val74Leu) in GATA1 (Erythroid transcription factor) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes published literature and structural context.
V74L (p.Val74Leu) variant details
- p.Val74Leu
- rs587776452
- ClinGen CA345938
- ClinVar RCV000011175
- ClinVar RCV000144253
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.695
- AlphaMissense 0.51
- MetaLR 0.89
- MetaSVM 0.49
- PolyPhen-2 0.01
- SIFT 0.00
- MutPred 0.33
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Developmental stage-selective effect of somatically mutated leukemogenic transcription factor GATA1. (PMID 15895080)
- Cited in: An inherited mutation leading to production of only the short isoform of GATA-1 is associated with impaired… (PMID 16783379)