A602G (p.Ala602Gly) variant of CDH2 (Cadherin-2)
A602G (p.Ala602Gly) in CDH2 (Cadherin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Auditory neuropathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
A602G (p.Ala602Gly) variant details
- p.Ala602Gly
- rs777374626
- ClinGen CA8923294
- ClinVar RCV003484486
- ExAC rs777374626
- Likely pathogenic
- Auditory neuropathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- REVEL 0.34
- MetaLR 0.38
- MetaSVM -0.56
- CADD 24.00
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Likely pathogenic (Auditory neuropathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available