R103C (p.Arg103Cys) variant of ERBB3 (P21860)
R103C (p.Arg103Cys) in ERBB3 (P21860) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Malignant tumor of urinary bladder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
R103C (p.Arg103Cys) variant details
- p.Arg103Cys
- rs146486757
- ClinGen CA6621894
- cosmic curated COSV57259
- ClinVar RCV003332947
- Pathogenic
- Malignant tumor of urinary bladder
- Missense
- Variant Prioritization Score for Impact Estimate 0.706
- REVEL 0.75
- MetaLR 0.76
- MetaSVM 0.61
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Malignant tumor of urinary bladder)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available