L13M (p.Leu13Met) variant of CYP21A2 (Steroid 21-hydroxylase)
L13M (p.Leu13Met) 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 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
L13M (p.Leu13Met) variant details
- p.Leu13Met
- rs758864534
- ClinGen CA363498658
- ClinVar RCV003142305
- UniProt VAR 077582
- Uncertain significance
- 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- CADD 14.40
- PolyPhen-2 0.96
- SIFT 0.12
- ClinVar: Uncertain significance (21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia)
- EBI: Variant of uncertain significance (in AH3)
- UniProt: Uncertain significance (in AH3)
- Population evidence available
- Structural context available
- Cited in: Functional and Structural Consequences of Nine CYP21A2 Mutations Ranging from Very Mild to Severe Effects. (PMID 27721825)
- Cited in: 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia. (PMID 20301350)