K55M (p.Lys55Met) variant of CYP27B1 (O15528)
K55M (p.Lys55Met) 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 0.50 / 1. The record also includes population frequency data and structural context.
K55M (p.Lys55Met) variant details
- p.Lys55Met
- rs762682469
- ClinGen CA6658530
- ClinVar RCV001966315
- ClinVar RCV003333774
- Uncertain significance
- not provided; Vitamin D-dependent rickets, type 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- ESM-1b 0.66
- AlphaMissense 0.20
- MetaLR 0.31
- MetaSVM -0.61
- PolyPhen-2 0.96
- SIFT 0.01
- 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