W39R (p.Trp39Arg) variant of CYP19A1 (Aromatase)
W39R (p.Trp39Arg) in CYP19A1 (Aromatase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Aromatase deficiency; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
W39R (p.Trp39Arg) variant details
- p.Trp39Arg
- rs2236722
- ClinGen CA392422972
- ClinVar RCV002139473
- UniProt VAR 023428
- Likely benign
- Aromatase deficiency; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.36
- CADD 23.30
- PolyPhen-2 0.17
- SIFT 0.01
- ClinVar: Likely benign (not provided)
- EBI: Benign (in dbSNP:rs2236722)
- UniProt: Benign (in dbSNP:rs2236722)
- Most common in the HGDP:JAPANESE population (allele frequency 0.089)
- Structural context available
- Cited in: Breast cancer risk associated with polymorphism in CYP19 in Japanese women. (PMID 10956405)