P11S (p.Pro11Ser) variant of VDR (Vitamin D3 receptor)
P11S (p.Pro11Ser) 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 0.32 / 1. The record also includes population frequency data and structural context.
P11S (p.Pro11Ser) variant details
- p.Pro11Ser
- rs1440932619
- NCI-TCGA Cosmic COSV5746
- cosmic curated COSV57468
- TOPMed rs1440932619
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.24
- MetaLR 0.63
- MetaSVM -0.19
- CADD 19.80
- PolyPhen-2 0.07
- SIFT 0.41
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available