L30F (p.Leu30Phe) variant of CYP21A2 (Steroid 21-hydroxylase)
L30F (p.Leu30Phe) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
L30F (p.Leu30Phe) variant details
- p.Leu30Phe
- Ensembl rs1434781973
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- CADD 20.10
- PolyPhen-2 0.29
- SIFT 0.08
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available