A92T (p.Ala92Thr) variant of CYP27B1 (O15528)
A92T (p.Ala92Thr) in CYP27B1 (O15528) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Vitamin D-dependent rickets, type 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
A92T (p.Ala92Thr) variant details
- p.Ala92Thr
- rs958027919
- ClinGen CA237815690
- ClinVar RCV002983026
- ClinVar RCV005010850
- Uncertain significance
- not provided; Vitamin D-dependent rickets, type 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- ESM-1b 0.44
- AlphaMissense 0.08
- MetaLR 0.10
- MetaSVM -1.04
- PolyPhen-2 0.00
- SIFT 0.47
- ClinVar: Uncertain significance (not provided; Vitamin D-dependent rickets, type 1A)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available