S9F (p.Ser9Phe) variant of VDR (Vitamin D3 receptor)
S9F (p.Ser9Phe) in VDR (Vitamin D3 receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
S9F (p.Ser9Phe) variant details
- p.Ser9Phe
- cosmic curated COSV57471
- gnomAD rs1348964021
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- REVEL 0.67
- MetaLR 0.91
- MetaSVM 0.80
- CADD 27.10
- PolyPhen-2 0.05
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available