N72S (p.Asn72Ser) variant of VDR (Vitamin D3 receptor)
N72S (p.Asn72Ser) in VDR (Vitamin D3 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
N72S (p.Asn72Ser) variant details
- p.Asn72Ser
- Ensembl rs76683299
- Missense
- Variant Prioritization Score for Impact Estimate 0.666
- REVEL 0.64
- MetaLR 0.89
- MetaSVM 0.75
- CADD 24.30
- PolyPhen-2 0.66
- SIFT 0.06
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available