P38L (p.Pro38Leu) variant of GATA1 (Erythroid transcription factor)
P38L (p.Pro38Leu) in GATA1 (Erythroid transcription factor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign 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 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
P38L (p.Pro38Leu) variant details
- p.Pro38Leu
- rs372131208
- ClinGen CA10404538
- cosmic curated COSV64962
- ClinVar RCV000500961
- Benign/Likely benign
- GATA binding protein 1 related thrombocytopenia with dyserythropoiesis; Diamond
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- REVEL 0.30
- MetaLR 0.84
- MetaSVM 0.03
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.07
- ClinVar: Benign/Likely benign (GATA binding protein 1 related thrombocytopenia with dyserythrop)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:PALESTINIAN population (allele frequency 0.016)
- Structural context available
- Cited in: DBA Syndrome. (PMID 20301769)
- Cited in: GATA1-Related Cytopenia. (PMID 20301538)