D2N (p.Asp2Asn) variant of GJB2 (Gap junction beta-2 protein)
D2N (p.Asp2Asn) in GJB2 (Gap junction beta-2 protein) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. 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.
D2N (p.Asp2Asn) variant details
- p.Asp2Asn
- NCI-TCGA Cosmic COSV1012
- cosmic curated COSV10124
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.51
- MetaLR 0.88
- MetaSVM 0.65
- CADD 14.20
- PolyPhen-2 0.01
- SIFT 1.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available