A7T (p.Ala7Thr) variant of CYP11B1 (P15538)
A7T (p.Ala7Thr) in CYP11B1 (P15538) 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 0.16 / 1. The record also includes population frequency data and structural context.
A7T (p.Ala7Thr) variant details
- p.Ala7Thr
- rs1349746694
- TOPMed rs1349746694
- gnomAD rs1349746694
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- REVEL 0.08
- CADD 4.35
- PolyPhen-2 0.06
- SIFT 0.13
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available