R18L (p.Arg18Leu) variant of ERBB3 (P21860)
R18L (p.Arg18Leu) in ERBB3 (P21860) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
R18L (p.Arg18Leu) variant details
- p.Arg18Leu
- cosmic curated COSV10585
- NCI-TCGA TCGA novel
- TOPMed rs1317504479
- gnomAD rs1317504479
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.27
- MetaLR 0.17
- MetaSVM -0.97
- CADD 19.60
- PolyPhen-2 0.00
- SIFT 0.82
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available