D24N (p.Asp24Asn) variant of ERBB4 (Q15303)
D24N (p.Asp24Asn) in ERBB4 (Q15303) 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 0.32 / 1. The record also includes population frequency data and structural context.
D24N (p.Asp24Asn) variant details
- p.Asp24Asn
- NCI-TCGA Cosmic COSV5357
- cosmic curated COSV53576
- ExAC rs774666639
- gnomAD rs774666639
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.15
- CADD 21.40
- PolyPhen-2 0.01
- SIFT 0.44
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available