V35A (p.Val35Ala) variant of CYP11B1 (P15538)
V35A (p.Val35Ala) in CYP11B1 (P15538) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Glucocorticoid-remediable aldosteronism; Deficiency of steroid 11. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
V35A (p.Val35Ala) variant details
- p.Val35Ala
- rs201951316
- ClinGen CA4905712
- ClinVar RCV000304435
- ClinVar RCV000361436
- Conflicting interpretations
- not provided; Glucocorticoid-remediable aldosteronism; Deficiency of steroid 11
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.15
- CADD 18.00
- PolyPhen-2 0.01
- SIFT 0.05
- ClinVar: Conflicting classifications of pathogenicity (not provided; Glucocorticoid-remediable aldosteronism; Deficienc)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:CHS population (allele frequency 0.0098)
- Structural context available