N64H (p.Asn64His) variant of CDH2 (Cadherin-2)
N64H (p.Asn64His) in CDH2 (Cadherin-2) 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 0.26 / 1. The record also includes population frequency data and structural context.
N64H (p.Asn64His) variant details
- p.Asn64His
- rs202205175
- ClinGen CA8923755
- ClinVar RCV002016398
- 1000Genomes rs202205175
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.15
- MetaLR 0.12
- MetaSVM -1.01
- CADD 22.80
- PolyPhen-2 0.60
- SIFT 0.17
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:TSI population (allele frequency 0.0049)
- Structural context available