D79N (p.Asp79Asn) variant of PCDH15 (Protocadherin-15)
D79N (p.Asp79Asn) in PCDH15 (Protocadherin-15) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data.
D79N (p.Asp79Asn) variant details
- p.Asp79Asn
- cosmic curated COSV57288
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- MetaLR 0.31
- MetaSVM -0.69
- CADD 26.10
- PolyPhen-2 0.52
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)