G14A (p.Gly14Ala) variant of VDR (Vitamin D3 receptor)
G14A (p.Gly14Ala) in VDR (Vitamin D3 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
G14A (p.Gly14Ala) variant details
- p.Gly14Ala
- ESP rs145438594
- TOPMed rs145438594
- gnomAD rs145438594
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.18
- MetaLR 0.63
- MetaSVM 0.04
- CADD 15.80
- PolyPhen-2 0.00
- SIFT 0.78
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available