A48D (p.Ala48Asp) variant of ERBB4 (Q15303)
A48D (p.Ala48Asp) 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 0.61 / 1. The record also includes population frequency data and structural context.
A48D (p.Ala48Asp) variant details
- p.Ala48Asp
- NCI-TCGA Cosmic COSV5354
- cosmic curated COSV53544
- Ensembl rs2125571236
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- REVEL 0.51
- CADD 25.10
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:PALESTINIAN population (allele frequency 0.013)
- Structural context available