A331V (p.Ala331Val) variant of CYP11B1 (P15538)
A331V (p.Ala331Val) in CYP11B1 (P15538) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Deficiency of steroid 11-beta-monooxygenase; Glucocorticoid-remediable aldostero. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes published literature and structural context.
A331V (p.Ala331Val) variant details
- p.Ala331Val
- rs1326688256
- ClinGen CA372394361
- NCI-TCGA Cosmic COSV5283
- cosmic curated COSV52830
- Pathogenic/Likely pathogenic
- Deficiency of steroid 11-beta-monooxygenase; Glucocorticoid-remediable aldostero
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- AlphaMissense 0.14
- MetaLR 0.44
- MetaSVM -0.18
- PolyPhen-2 1.00
- SIFT 0.10
- MutPred 0.81
- ClinVar: Pathogenic/Likely pathogenic (Deficiency of steroid 11-beta-monooxygenase; Glucocorticoid-reme)
- EBI: Pathogenic (in AH4)
- UniProt: Pathogenic (in AH4)
- Structural context available
- Cited in: Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and… (PMID 20089618)
- Cited in: 21-Hydroxylase and 11beta-hydroxylase mutations in Romanian patients with classic congenital adrenal hyperplasia. (PMID 16046588)