A306V (p.Ala306Val) variant of CYP11B1 (P15538)
A306V (p.Ala306Val) in CYP11B1 (P15538) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Congenital adrenal hyperplasia; not provided; Deficiency of steroid 11-beta-mono. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
A306V (p.Ala306Val) variant details
- p.Ala306Val
- rs387907572
- ClinGen CA344781
- ClinVar RCV000050225
- ClinVar RCV001239586
- Pathogenic/Likely pathogenic
- Congenital adrenal hyperplasia; not provided; Deficiency of steroid 11-beta-mono
- Missense
- Variant Prioritization Score for Impact Estimate 0.547
- REVEL 0.55
- CADD 24.20
- PolyPhen-2 0.91
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (Congenital adrenal hyperplasia; not provided; Deficiency of ster)
- EBI: Pathogenic (in AH4)
- UniProt: Pathogenic (in AH4)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- 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: Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations. (PMID 24022297)