M261R (p.Met261Arg) variant of CYP21A2 (Steroid 21-hydroxylase)
M261R (p.Met261Arg) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes published literature.
M261R (p.Met261Arg) variant details
- p.Met261Arg
- rs1582307951
- Ensembl rs1582307951
- ClinGen CA363506201
- ClinVar RCV000984611
- Likely pathogenic
- 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- AlphaMissense 0.81
- MetaLR 0.57
- MetaSVM 0.25
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.84
- ClinVar: Likely pathogenic (21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Cited in: 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia. (PMID 20301350)
- Cited in: Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice… (PMID 30272171)