V26M (p.Val26Met) variant of VDR (Vitamin D3 receptor)
V26M (p.Val26Met) in VDR (Vitamin D3 receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes structural context.
V26M (p.Val26Met) variant details
- p.Val26Met
- rs1946077078
- ClinGen CA384515010
- ClinVar RCV003058374
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.927
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.81
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available