L30V (p.Leu30Val) variant of CYP19A1 (Aromatase)
L30V (p.Leu30Val) in CYP19A1 (Aromatase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
L30V (p.Leu30Val) variant details
- p.Leu30Val
- TOPMed rs1264142154
- gnomAD rs1264142154
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.20
- CADD 17.10
- PolyPhen-2 0.20
- SIFT 0.08
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available