Q19K (p.Gln19Lys) variant of CYP11B1 (P15538)
Q19K (p.Gln19Lys) in CYP11B1 (P15538) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
Q19K (p.Gln19Lys) variant details
- p.Gln19Lys
- cosmic curated COSV52829
- ExAC rs763195324
- TOPMed rs763195324
- gnomAD rs763195324
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.134
- REVEL 0.18
- CADD 0.21
- PolyPhen-2 0.01
- SIFT 0.88
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available