N9S (p.Asn9Ser) variant of BARD1 (Q99728)
N9S (p.Asn9Ser) in BARD1 (Q99728) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
N9S (p.Asn9Ser) variant details
- p.Asn9Ser
- TOPMed rs1696475019
- Likely benign
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.154
- REVEL 0.18
- CADD 5.55
- PolyPhen-2 0.00
- SIFT 0.68
- ClinVar: Likely benign (Hereditary cancer-predisposing syndrome)
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available