A115S (p.Ala115Ser) variant of VDR (Vitamin D3 receptor)
A115S (p.Ala115Ser) in VDR (Vitamin D3 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
A115S (p.Ala115Ser) variant details
- p.Ala115Ser
- Ensembl rs1462926827
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- REVEL 0.37
- MetaLR 0.78
- MetaSVM 0.37
- CADD 23.50
- PolyPhen-2 0.10
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available