W11G (p.Trp11Gly) variant of CYP27A1 (Q02318)
W11G (p.Trp11Gly) in CYP27A1 (Q02318) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
W11G (p.Trp11Gly) variant details
- p.Trp11Gly
- TOPMed rs1209215033
- gnomAD rs1209215033
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.27
- CADD 23.30
- PolyPhen-2 0.05
- SIFT 0.11
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available