A20T (p.Ala20Thr) variant of CYP19A1 (Aromatase)
A20T (p.Ala20Thr) in CYP19A1 (Aromatase) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
A20T (p.Ala20Thr) variant details
- p.Ala20Thr
- rs1462327243
- cosmic curated COSV10960
- gnomAD rs1462327243
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.141
- REVEL 0.07
- CADD 8.34
- PolyPhen-2 0.00
- SIFT 0.75
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available