Y77C (p.Tyr77Cys) variant of CYP19A1 (Aromatase)
Y77C (p.Tyr77Cys) in CYP19A1 (Aromatase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
Y77C (p.Tyr77Cys) variant details
- p.Tyr77Cys
- rs772620133
- ClinGen CA7560133
- ClinVar RCV000413481
- ExAC rs772620133
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.733
- REVEL 0.80
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available