N62S (p.Asn62Ser) variant of ERBB4 (Q15303)
N62S (p.Asn62Ser) in ERBB4 (Q15303) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
N62S (p.Asn62Ser) variant details
- p.Asn62Ser
- ExAC rs767922354
- TOPMed rs767922354
- gnomAD rs767922354
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.718
- REVEL 0.77
- CADD 26.20
- PolyPhen-2 0.99
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available