L836R (p.Leu836Arg) variant of ERBB2 (P04626)
L836R (p.Leu836Arg) in ERBB2 (P04626) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic in the context of Lung adenocarcinoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
L836R (p.Leu836Arg) variant details
- p.Leu836Arg
- gnomAD rs1184294117
- Pathogenic
- Lung adenocarcinoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.854
- REVEL 0.98
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Lung adenocarcinoma)
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available