P22L (p.Pro22Leu) variant of ERBB4 (Q15303)
P22L (p.Pro22Leu) in ERBB4 (Q15303) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
P22L (p.Pro22Leu) variant details
- p.Pro22Leu
- TOPMed rs1300045748
- gnomAD rs1300045748
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.11
- CADD 17.30
- PolyPhen-2 0.01
- SIFT 0.65
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available