R27I (p.Arg27Ile) variant of CYP11B1 (P15538)
R27I (p.Arg27Ile) in CYP11B1 (P15538) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
R27I (p.Arg27Ile) variant details
- p.Arg27Ile
- ExAC rs768585386
- TOPMed rs768585386
- gnomAD rs768585386
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.28
- CADD 19.30
- PolyPhen-2 0.67
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available