H28N (p.His28Asn) variant of GATA3 (P23771)
H28N (p.His28Asn) in GATA3 (P23771) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; GATA3-related disorder; Hypoparathyroidism, deafness, renal diseas. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
H28N (p.His28Asn) variant details
- p.His28Asn
- rs202045701
- ClinGen CA5404285
- ClinVar RCV003118771
- ClinVar RCV003396896
- Conflicting interpretations
- not provided; GATA3-related disorder; Hypoparathyroidism, deafness, renal diseas
- Missense
- Variant Prioritization Score for Impact Estimate 0.797
- REVEL 0.76
- MetaLR 0.93
- MetaSVM 1.05
- CADD 27.00
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; GATA3-related disorder; Hypoparathyroidism, deafne)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 0.00066)
- Structural context available