H69Q (p.His69Gln) variant of CYP11B1 (P15538)
H69Q (p.His69Gln) in CYP11B1 (P15538) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
H69Q (p.His69Gln) variant details
- p.His69Gln
- rs776502555
- ClinGen CA4905681
- ClinVar RCV002674790
- ClinVar RCV004750858
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.144
- REVEL 0.20
- CADD 0.32
- PolyPhen-2 0.33
- SIFT 0.44
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)