N80S (p.Asn80Ser) variant of PCDH15 (Protocadherin-15)
N80S (p.Asn80Ser) in PCDH15 (Protocadherin-15) 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 0.54 / 1. The record also includes population frequency data.
N80S (p.Asn80Ser) variant details
- p.Asn80Ser
- rs757144722
- ClinGen CA376540576
- ClinVar RCV002937494
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.537
- MetaLR 0.25
- MetaSVM -0.60
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)