V32I (p.Val32Ile) variant of GATA1 (Erythroid transcription factor)
V32I (p.Val32Ile) in GATA1 (Erythroid transcription factor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Down syndrome; Thrombocytopenia, X-linked, with or without dyseryt. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
V32I (p.Val32Ile) variant details
- p.Val32Ile
- rs782698349
- ClinGen CA10404535
- ClinVar RCV000533431
- ClinVar RCV000766096
- Conflicting interpretations
- not provided; Down syndrome; Thrombocytopenia, X-linked, with or without dyseryt
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.18
- MetaLR 0.72
- MetaSVM -0.09
- CADD 12.60
- PolyPhen-2 0.00
- SIFT 0.38
- ClinVar: Conflicting classifications of pathogenicity (not provided; Down syndrome; Thrombocytopenia, X-linked, with or)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 9.4e-05)
- Structural context available
- Cited in: GATA1-Related Cytopenia. (PMID 20301538)
- Cited in: DBA Syndrome. (PMID 20301769)