L8M (p.Leu8Met) variant of CYP21A2 (Steroid 21-hydroxylase)
L8M (p.Leu8Met) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
L8M (p.Leu8Met) variant details
- p.Leu8Met
- rs2483310651
- ClinGen CA363498631
- ClinVar RCV003155753
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- CADD 20.30
- PolyPhen-2 0.92
- SIFT 0.13
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available