D58E (p.Asp58Glu) variant of PCDH15 (Protocadherin-15)
D58E (p.Asp58Glu) 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 0.34 / 1. The record also includes population frequency data.
D58E (p.Asp58Glu) variant details
- p.Asp58Glu
- rs1169100269
- ClinGen CA376540716
- ClinVar RCV001758505
- TOPMed rs1169100269
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- MetaLR 0.14
- MetaSVM -0.98
- CADD 22.20
- PolyPhen-2 0.89
- SIFT 0.24
- 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)