H71P (p.His71Pro) variant of GATA1 (Erythroid transcription factor)
H71P (p.His71Pro) 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 not provided; Diamond-Blackfan anemia; GATA binding protein 1 related thrombocyt. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
H71P (p.His71Pro) variant details
- p.His71Pro
- rs374300356
- ClinGen CA10404556
- cosmic curated COSV64962
- ClinVar RCV002074914
- Benign/Likely benign
- not provided; Diamond-Blackfan anemia; GATA binding protein 1 related thrombocyt
- Missense
- Variant Prioritization Score for Impact Estimate 0.631
- REVEL 0.64
- MetaLR 0.90
- MetaSVM 0.73
- CADD 22.00
- PolyPhen-2 0.18
- SIFT 0.00
- ClinVar: Benign/Likely benign (not provided; Diamond-Blackfan anemia; GATA binding protein 1 re)
- 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)