S27I (p.Ser27Ile) variant of CYP21A2 (Steroid 21-hydroxylase)
S27I (p.Ser27Ile) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
S27I (p.Ser27Ile) variant details
- p.Ser27Ile
- gnomAD 6-32038502-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.146
- CADD 12.20
- PolyPhen-2 0.10
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available