A38V (p.Ala38Val) variant of VDR (Vitamin D3 receptor)
A38V (p.Ala38Val) in VDR (Vitamin D3 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
A38V (p.Ala38Val) variant details
- p.Ala38Val
- TOPMed rs1946075589
- Missense
- Variant Prioritization Score for Impact Estimate 0.73
- REVEL 0.72
- MetaLR 0.77
- MetaSVM 0.55
- CADD 23.80
- PolyPhen-2 0.34
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available