L3L (p.Leu3Leu) variant of ERBB2 (P04626)
L3L (p.Leu3Leu) in ERBB2 (P04626) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
L3L (p.Leu3Leu) variant details
- p.Leu3Leu
- rs2058005545
- gnomAD 17-39700245-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.432
- AlphaMissense 0.08
- MetaLR 0.52
- MetaSVM -0.15
- CADD 13.30
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.7e-06)
- Structural context available
- Literature evidence available