S119N (p.Ser119Asn) variant of VDR (Vitamin D3 receptor)
S119N (p.Ser119Asn) in VDR (Vitamin D3 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
S119N (p.Ser119Asn) variant details
- p.Ser119Asn
- gnomAD rs1240044438
- Missense
- Variant Prioritization Score for Impact Estimate 0.537
- REVEL 0.33
- MetaLR 0.76
- MetaSVM 0.50
- CADD 23.50
- PolyPhen-2 0.22
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available