M240K (p.Met240Lys) variant of CYP21A2 (Steroid 21-hydroxylase)
M240K (p.Met240Lys) 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; Congenital adrenal hype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and published literature.
M240K (p.Met240Lys) variant details
- p.Met240Lys
- rs6476
- 1000Genomes rs6476
- ESP rs6476
- ExAC rs6476
- Uncertain significance
- 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia; Congenital adrenal hype
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- CADD 10.20
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not specified)
- EBI: Pathogenic (in AH3)
- UniProt: Pathogenic (in AH3)
- Most common in the HGDP:BIAKA population (allele frequency 0.11)
- Cited in: A rapid screening for steroid 21-hydroxylase mutations in patients with congenital adrenal hyperplasia. Mutations in… (PMID 10408786)
- Cited in: Detection and assignment of CYP21 mutations using peptide mass signature genotyping. (PMID 15110320)