H71R (p.His71Arg) variant of GATA1 (Erythroid transcription factor)
H71R (p.His71Arg) in GATA1 (Erythroid transcription factor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Diamond-Blackfan anemia; GATA binding protein 1 related thrombocytopenia with dy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
H71R (p.His71Arg) variant details
- p.His71Arg
- rs374300356
- ClinGen CA10404557
- cosmic curated COSV64962
- ClinVar RCV000640924
- Benign
- Diamond-Blackfan anemia; GATA binding protein 1 related thrombocytopenia with dy
- Missense
- Variant Prioritization Score for Impact Estimate 0.566
- REVEL 0.50
- MetaLR 0.91
- MetaSVM 0.85
- CADD 20.60
- PolyPhen-2 0.07
- SIFT 0.02
- ClinVar: Benign (Diamond-Blackfan anemia; GATA binding protein 1 related thromboc)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:HAN population (allele frequency 0.02)
- Structural context available
- Cited in: DBA Syndrome. (PMID 20301769)
- Cited in: GATA1-Related Cytopenia. (PMID 20301538)