S12C (p.Ser12Cys) variant of ERBB4 (Q15303)
S12C (p.Ser12Cys) in ERBB4 (Q15303) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
S12C (p.Ser12Cys) variant details
- p.Ser12Cys
- ExAC rs749688150
- TOPMed rs749688150
- gnomAD rs749688150
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.38
- CADD 25.10
- PolyPhen-2 0.92
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available