N164S (p.Asn164Ser) variant of APP (Amyloid-beta precursor protein)
N164S (p.Asn164Ser) in APP (Amyloid-beta precursor protein) is a missense change. Clinical records from ClinVar, EBI, 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 0.40 / 1. The record also includes population frequency data and structural context.
N164S (p.Asn164Ser) variant details
- p.Asn164Ser
- rs1231783932
- ClinGen CA409863056
- ClinVar RCV000658921
- gnomAD rs1231783932
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.35
- CADD 17.80
- PolyPhen-2 0.00
- SIFT 0.78
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available