A115V (p.Ala115Val) variant of VDR (Vitamin D3 receptor)
A115V (p.Ala115Val) in VDR (Vitamin D3 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
A115V (p.Ala115Val) variant details
- p.Ala115Val
- cosmic curated COSV57470
- Ensembl rs267603484
- Missense
- Variant Prioritization Score for Impact Estimate 0.607
- REVEL 0.44
- MetaLR 0.86
- MetaSVM 0.66
- CADD 25.30
- PolyPhen-2 0.11
- SIFT 0.05
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available