A5V (p.Ala5Val) variant of VDR (Vitamin D3 receptor)
A5V (p.Ala5Val) 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 not provided; Vitamin D-dependent rickets type II with alopecia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
A5V (p.Ala5Val) variant details
- p.Ala5Val
- rs368441608
- ClinGen CA6534107
- ClinVar RCV001111987
- ClinVar RCV002556186
- Uncertain significance
- not provided; Vitamin D-dependent rickets type II with alopecia
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.23
- MetaLR 0.56
- MetaSVM 0.13
- CADD 17.40
- PolyPhen-2 0.00
- SIFT 0.11
- ClinVar: Uncertain significance (not provided; Vitamin D-dependent rickets type II with alopecia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available