N80I (p.Asn80Ile) variant of PCDH15 (Protocadherin-15)
N80I (p.Asn80Ile) in PCDH15 (Protocadherin-15) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data.
N80I (p.Asn80Ile) variant details
- p.Asn80Ile
- 1000Genomes rs757144722
- ExAC rs757144722
- gnomAD rs757144722
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- MetaLR 0.28
- MetaSVM -0.48
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)