A8T (p.Ala8Thr) variant of CYP27B1 (O15528)
A8T (p.Ala8Thr) in CYP27B1 (O15528) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
A8T (p.Ala8Thr) variant details
- p.Ala8Thr
- rs577501884
- 1000Genomes rs577501884
- ExAC rs577501884
- TOPMed rs577501884
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.17
- MetaSVM -0.99
- PolyPhen-2 0.01
- SIFT 0.23
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available