T8S (p.Thr8Ser) variant of VDR (Vitamin D3 receptor)
T8S (p.Thr8Ser) in VDR (Vitamin D3 receptor) is a missense change. Clinical records from ClinVar 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 0.44 / 1. The record also includes population frequency data and structural context.
T8S (p.Thr8Ser) variant details
- p.Thr8Ser
- ExAC rs766835351
- TOPMed rs766835351
- gnomAD rs766835351
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- REVEL 0.34
- MetaLR 0.65
- MetaSVM 0.04
- CADD 22.40
- PolyPhen-2 0.01
- SIFT 0.15
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available