H128R (p.His128Arg) variant of CYP19A1 (Aromatase)
H128R (p.His128Arg) in CYP19A1 (Aromatase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Premature ovarian failure; Aromatase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
H128R (p.His128Arg) variant details
- p.His128Arg
- rs375975652
- ClinGen CA7560086
- ClinVar RCV001120303
- ClinVar RCV001270230
- Conflicting interpretations
- Premature ovarian failure; Aromatase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.539
- REVEL 0.47
- CADD 25.20
- PolyPhen-2 0.53
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Premature ovarian failure; Aromatase deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available