A78V (p.Ala78Val) variant of VDR (Vitamin D3 receptor)
A78V (p.Ala78Val) in VDR (Vitamin D3 receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Vitamin D-dependent rickets type II with alopecia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
A78V (p.Ala78Val) variant details
- p.Ala78Val
- TOPMed rs1945701261
- gnomAD rs1945701261
- Uncertain significance
- Vitamin D-dependent rickets type II with alopecia
- Missense
- Variant Prioritization Score for Impact Estimate 0.825
- REVEL 0.79
- MetaLR 0.96
- MetaSVM 1.09
- CADD 29.70
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Uncertain significance (Vitamin D-dependent rickets type II with alopecia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available