N52D (p.Asn52Asp) variant of PCDH15 (Protocadherin-15)
N52D (p.Asn52Asp) in PCDH15 (Protocadherin-15) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data.
N52D (p.Asn52Asp) variant details
- p.Asn52Asp
- gnomAD rs2083499898
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- MetaLR 0.14
- MetaSVM -0.76
- CADD 23.80
- PolyPhen-2 0.64
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)