S653F (p.Ser653Phe) variant of ERBB2 (P04626)
S653F (p.Ser653Phe) in ERBB2 (P04626) 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 0.36 / 1. The record also includes structural context.
S653F (p.Ser653Phe) variant details
- p.Ser653Phe
- rs2145802334
- ClinGen CA399299414
- NCI-TCGA Cosmic COSV5406
- NCI-TCGA Cosmic COSV9950
- Pathogenic
- Malignant tumor of urinary bladder
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- AlphaMissense 0.15
- MetaLR 0.21
- MetaSVM -0.95
- PolyPhen-2 0.01
- SIFT 0.43
- MutPred 0.52
- ClinVar: Pathogenic (Malignant tumor of urinary bladder)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available