V15I (p.Val15Ile) variant of CYP27B1 (O15528)
V15I (p.Val15Ile) 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 0.26 / 1. The record also includes population frequency data and structural context.
V15I (p.Val15Ile) variant details
- p.Val15Ile
- rs202028173
- ClinGen CA6658558
- ClinVar RCV002586052
- ClinVar RCV005008619
- Uncertain significance
- not provided; Vitamin D-dependent rickets, type 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.15
- MetaSVM -1.02
- PolyPhen-2 0.00
- SIFT 0.38
- 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