L41P (p.Leu41Pro) variant of CYP21A2 (Steroid 21-hydroxylase)
L41P (p.Leu41Pro) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
L41P (p.Leu41Pro) variant details
- p.Leu41Pro
- TOPMed rs1299056901
- gnomAD rs1299056901
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- CADD 22.90
- PolyPhen-2 0.95
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available