S12N (p.Ser12Asn) variant of ERBB4 (Q15303)
S12N (p.Ser12Asn) in ERBB4 (Q15303) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
S12N (p.Ser12Asn) variant details
- p.Ser12Asn
- ExAC rs755858938
- TOPMed rs755858938
- gnomAD rs755858938
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.27
- CADD 23.10
- PolyPhen-2 0.58
- SIFT 0.57
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available