P22S (p.Pro22Ser) variant of ERBB4 (Q15303)
P22S (p.Pro22Ser) in ERBB4 (Q15303) 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 0.32 / 1. The record also includes population frequency data and structural context.
P22S (p.Pro22Ser) variant details
- p.Pro22Ser
- TOPMed rs930144500
- gnomAD rs930144500
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.10
- CADD 21.20
- PolyPhen-2 0.00
- SIFT 0.87
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available