P13S (p.Pro13Ser) variant of VDR (Vitamin D3 receptor)
P13S (p.Pro13Ser) in VDR (Vitamin D3 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
P13S (p.Pro13Ser) variant details
- p.Pro13Ser
- ExAC rs761055434
- gnomAD rs761055434
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.23
- MetaLR 0.67
- MetaSVM 0.01
- CADD 17.20
- PolyPhen-2 0.01
- SIFT 0.22
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available