N824S (p.Asn824Ser) variant of ERBB2 (P04626)
N824S (p.Asn824Ser) in ERBB2 (P04626) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic in the context of Ovarian neoplasm. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
N824S (p.Asn824Ser) variant details
- p.Asn824Ser
- gnomAD rs1354152513
- Pathogenic
- Ovarian neoplasm
- Missense
- Variant Prioritization Score for Impact Estimate 0.594
- REVEL 0.57
- CADD 25.70
- PolyPhen-2 0.86
- SIFT 0.02
- ClinVar: Pathogenic (Ovarian neoplasm)
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available