F110L (p.Phe110Leu) variant of CYP27B1 (O15528)
F110L (p.Phe110Leu) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes structural context.
F110L (p.Phe110Leu) variant details
- p.Phe110Leu
- rs781119946
- ClinGen CA6658496
- ClinVar RCV002609184
- ExAC rs781119946
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- ESM-1b 0.00
- AlphaMissense 0.84
- MetaLR 0.09
- MetaSVM -0.99
- PolyPhen-2 0.00
- SIFT 0.40
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available