M85V (p.Met85Val) variant of CYP19A1 (Aromatase)
M85V (p.Met85Val) in CYP19A1 (Aromatase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
M85V (p.Met85Val) variant details
- p.Met85Val
- rs989424694
- ClinGen CA270541987
- ClinVar RCV003067489
- TOPMed rs989424694
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.18
- CADD 10.80
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available