L3F (p.Leu3Phe) variant of CYP21A2 (Steroid 21-hydroxylase)
L3F (p.Leu3Phe) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
L3F (p.Leu3Phe) variant details
- p.Leu3Phe
- Ensembl rs2151870001
- Missense
- Variant Prioritization Score for Impact Estimate 0.124
- CADD 9.90
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available