L116S (p.Leu116Ser) variant of VDR (Vitamin D3 receptor)
L116S (p.Leu116Ser) in VDR (Vitamin D3 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
L116S (p.Leu116Ser) variant details
- p.Leu116Ser
- gnomAD rs1470558331
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.26
- MetaLR 0.62
- MetaSVM -0.16
- CADD 22.30
- PolyPhen-2 0.03
- SIFT 0.20
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available