L28F (p.Leu28Phe) variant of CYP21A2 (Steroid 21-hydroxylase)
L28F (p.Leu28Phe) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
L28F (p.Leu28Phe) variant details
- p.Leu28Phe
- Ensembl rs2151870224
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- CADD 19.60
- PolyPhen-2 0.87
- SIFT 0.08
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available