A31V (p.Ala31Val) variant of VDR (Vitamin D3 receptor)
A31V (p.Ala31Val) in VDR (Vitamin D3 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data and structural context.
A31V (p.Ala31Val) variant details
- p.Ala31Val
- Ensembl rs1946076344
- Missense
- Variant Prioritization Score for Impact Estimate 0.899
- REVEL 0.95
- MetaLR 0.96
- MetaSVM 1.10
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 8.1e-06)
- Structural context available