L3V (p.Leu3Val) variant of ERBB2 (P04626)
L3V (p.Leu3Val) in ERBB2 (P04626) is a missense change. Clinical records from ClinVar, EBI, 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 0.48 / 1. The record also includes structural context.
L3V (p.Leu3Val) variant details
- p.Leu3Val
- rs2058005545
- ClinGen CA399266410
- ClinVar RCV001917179
- Ensembl rs2058005545
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- AlphaMissense 0.08
- MetaLR 0.52
- MetaSVM -0.15
- PolyPhen-2 0.96
- SIFT 0.00
- MutPred 0.31
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available