L12F (p.Leu12Phe) variant of ERBB2 (P04626)
L12F (p.Leu12Phe) in ERBB2 (P04626) is a missense change. 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.
L12F (p.Leu12Phe) variant details
- p.Leu12Phe
- gnomAD rs1318994039
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.36
- CADD 23.00
- PolyPhen-2 0.97
- SIFT 0.07
- Most common in the Ashkenazi Jewish population (allele frequency 4.5e-05)
- Structural context available