A6S (p.Ala6Ser) variant of VDR (Vitamin D3 receptor)
A6S (p.Ala6Ser) in VDR (Vitamin D3 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
A6S (p.Ala6Ser) variant details
- p.Ala6Ser
- TOPMed rs1201137636
- gnomAD rs1201137636
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.15
- MetaLR 0.64
- MetaSVM -0.08
- CADD 17.00
- PolyPhen-2 0.00
- SIFT 0.36
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available