E130K (p.Glu130Lys) variant of CYP27B1 (O15528)
E130K (p.Glu130Lys) 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 0.54 / 1. The record also includes population frequency data and structural context.
E130K (p.Glu130Lys) variant details
- p.Glu130Lys
- rs577603625
- ClinGen CA6658444
- ClinVar RCV001367121
- 1000Genomes rs577603625
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- ESM-1b 1.00
- AlphaMissense 0.15
- MetaLR 0.26
- MetaSVM -0.78
- PolyPhen-2 0.42
- SIFT 0.12
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available