P13R (p.Pro13Arg) variant of VDR (Vitamin D3 receptor)
P13R (p.Pro13Arg) in VDR (Vitamin D3 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
P13R (p.Pro13Arg) variant details
- p.Pro13Arg
- gnomAD rs1393616341
- Missense
- Variant Prioritization Score for Impact Estimate 0.592
- REVEL 0.47
- MetaLR 0.86
- MetaSVM 0.86
- CADD 23.90
- PolyPhen-2 0.07
- SIFT 0.04
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available