A297V (p.Ala297Val) variant of CYP11B1 (P15538)
A297V (p.Ala297Val) in CYP11B1 (P15538) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.27 / 1. The record also includes population frequency data and structural context.
A297V (p.Ala297Val) variant details
- p.Ala297Val
- rs375892072
- ClinGen CA4905269
- cosmic curated COSV52826
- ClinVar RCV001535982
- Likely pathogenic
- Deficiency of steroid 11-beta-monooxygenase; Glucocorticoid-remediable aldostero
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.16
- CADD 20.80
- PolyPhen-2 0.62
- SIFT 0.01
- ClinVar: Likely pathogenic (Deficiency of steroid 11-beta-monooxygenase; Glucocorticoid-reme)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the REMAINING population (allele frequency 8.3e-05)
- Structural context available