T8A (p.Thr8Ala) variant of VDR (Vitamin D3 receptor)
T8A (p.Thr8Ala) in VDR (Vitamin D3 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
T8A (p.Thr8Ala) variant details
- p.Thr8Ala
- cosmic curated COSV10721
- ExAC rs776847875
- gnomAD rs776847875
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.20
- MetaLR 0.63
- MetaSVM 0.06
- CADD 20.30
- PolyPhen-2 0.03
- SIFT 0.07
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available