P61L (p.Pro61Leu) variant of VDR (Vitamin D3 receptor)
P61L (p.Pro61Leu) in VDR (Vitamin D3 receptor) 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 0.79 / 1. The record also includes structural context.
P61L (p.Pro61Leu) variant details
- p.Pro61Leu
- rs1945703092
- ClinGen CA384511632
- ClinVar RCV001235486
- NCI-TCGA TCGA novel
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.789
- AlphaMissense 0.80
- MetaLR 0.91
- MetaSVM 0.94
- PolyPhen-2 0.94
- SIFT 0.03
- EVE 0.40
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available