P21T (p.Pro21Thr) variant of VDR (Vitamin D3 receptor)
P21T (p.Pro21Thr) in VDR (Vitamin D3 receptor) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
P21T (p.Pro21Thr) variant details
- p.Pro21Thr
- ESP rs371855706
- ExAC rs371855706
- TOPMed rs371855706
- gnomAD rs371855706
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.812
- REVEL 0.80
- MetaLR 0.92
- MetaSVM 1.03
- CADD 25.10
- PolyPhen-2 0.81
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available