M284V (p.Met284Val) variant of CYP21A2 (Steroid 21-hydroxylase)
M284V (p.Met284Val) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
M284V (p.Met284Val) variant details
- p.Met284Val
- rs770199817
- ExAC rs770199817
- TOPMed rs770199817
- gnomAD rs770199817
- Pathogenic/Likely pathogenic
- not provided; 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; 21-Hydroxylase-Deficient Congenital Adrenal Hyperp)
- EBI: Pathogenic (in AH3)
- UniProt: Pathogenic (in AH3)
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- Structural context available
- 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)