P50L (p.Pro50Leu) variant of GATA1 (Erythroid transcription factor)
P50L (p.Pro50Leu) in GATA1 (Erythroid transcription factor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of GATA binding protein 1 related thrombocytopenia with dyserythropoiesis; Diamond. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
P50L (p.Pro50Leu) variant details
- p.Pro50Leu
- rs201489369
- NCI-TCGA Cosmic COSV6496
- cosmic curated COSV64962
- Uncertain significance
- GATA binding protein 1 related thrombocytopenia with dyserythropoiesis; Diamond
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.16
- MetaLR 0.81
- MetaSVM 0.16
- CADD 16.50
- PolyPhen-2 0.00
- SIFT 0.48
- ClinVar: Uncertain significance (GATA binding protein 1 related thrombocytopenia with dyserythrop)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ASW population (allele frequency 0.013)
- Structural context available