P14S (p.Pro14Ser) variant of CYP11B1 (P15538)
P14S (p.Pro14Ser) in CYP11B1 (P15538) is a missense change. Clinical records from ClinVar 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 0.09 / 1. The record also includes population frequency data and structural context.
P14S (p.Pro14Ser) variant details
- p.Pro14Ser
- ExAC rs779731828
- TOPMed rs779731828
- gnomAD rs779731828
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.09
- REVEL 0.11
- CADD 0.52
- PolyPhen-2 0.06
- SIFT 0.34
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available