V370M (p.Val370Met) variant of CYP19A1 (Aromatase)
V370M (p.Val370Met) in CYP19A1 (Aromatase) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Differences in sex development. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
V370M (p.Val370Met) variant details
- p.Val370Met
- rs759563175
- NCI-TCGA Cosmic COSV5305
- cosmic curated COSV53057
- ExAC rs759563175
- Likely pathogenic
- Differences in sex development
- Missense
- Variant Prioritization Score for Impact Estimate 0.69
- REVEL 0.69
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Differences in sex development)
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 5.8e-05)
- Structural context available