L13P (p.Leu13Pro) variant of CYP21A2 (Steroid 21-hydroxylase)
L13P (p.Leu13Pro) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in AH3. 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.
L13P (p.Leu13Pro) variant details
- p.Leu13Pro
- gnomAD rs1277828100
- Uncertain significance
- in AH3
- Missense
- Variant Prioritization Score for Impact Estimate 0.618
- CADD 24.00
- PolyPhen-2 0.92
- SIFT 0.01
- EBI: uncertain significance (in AH3)
- UniProt: Uncertain significance (in AH3)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available