S17F (p.Ser17Phe) variant of CYP11B1 (P15538)
S17F (p.Ser17Phe) in CYP11B1 (P15538) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided. 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.
S17F (p.Ser17Phe) variant details
- p.Ser17Phe
- rs142591816
- ClinGen CA4905733
- cosmic curated COSV99455
- ClinVar RCV000516509
- Conflicting interpretations
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.27
- CADD 15.70
- PolyPhen-2 0.65
- SIFT 0.13
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:MANDENKA population (allele frequency 0.025)
- Structural context available