L16F (p.Leu16Phe) variant of ERBB2 (P04626)
L16F (p.Leu16Phe) in ERBB2 (P04626) is a missense change. Clinical records from ClinVar 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 0.49 / 1. The record also includes population frequency data and structural context.
L16F (p.Leu16Phe) variant details
- p.Leu16Phe
- TOPMed rs1567892325
- gnomAD rs1567892325
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- REVEL 0.42
- CADD 23.70
- PolyPhen-2 0.97
- SIFT 0.22
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.8e-05)
- Structural context available