S12R (p.Ser12Arg) variant of ERBB4 (Q15303)
S12R (p.Ser12Arg) in ERBB4 (Q15303) 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 0.44 / 1. The record also includes population frequency data and structural context.
S12R (p.Ser12Arg) variant details
- p.Ser12Arg
- rs1478394764
- ClinGen CA350784009
- ClinVar RCV002993779
- TOPMed rs1478394764
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.33
- CADD 23.60
- PolyPhen-2 0.69
- SIFT 0.61
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available