L11F (p.Leu11Phe) variant of ERBB2 (P04626)
L11F (p.Leu11Phe) in ERBB2 (P04626) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
L11F (p.Leu11Phe) variant details
- p.Leu11Phe
- TOPMed rs1456994901
- gnomAD rs1456994901
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.15
- CADD 17.40
- PolyPhen-2 0.00
- SIFT 0.30
- Most common in the South Asian population (allele frequency 1.5e-05)
- Structural context available