P21L (p.Pro21Leu) variant of VDR (Vitamin D3 receptor)
P21L (p.Pro21Leu) in VDR (Vitamin D3 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
P21L (p.Pro21Leu) variant details
- p.Pro21Leu
- ExAC rs781313589
- TOPMed rs781313589
- gnomAD rs781313589
- Missense
- Variant Prioritization Score for Impact Estimate 0.81
- REVEL 0.81
- MetaLR 0.90
- MetaSVM 0.92
- CADD 24.60
- PolyPhen-2 0.57
- SIFT 0.08
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available