N19S (p.Asn19Ser) variant of VDR (Vitamin D3 receptor)
N19S (p.Asn19Ser) in VDR (Vitamin D3 receptor) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
N19S (p.Asn19Ser) variant details
- p.Asn19Ser
- rs992960287
- NCI-TCGA Cosmic COSV9996
- cosmic curated COSV99968
- TOPMed rs992960287
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.32
- MetaLR 0.68
- MetaSVM 0.25
- CADD 21.10
- PolyPhen-2 0.01
- SIFT 0.10
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available