A16V (p.Ala16Val) variant of ERBB4 (Q15303)
A16V (p.Ala16Val) 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 0.29 / 1. The record also includes population frequency data and structural context.
A16V (p.Ala16Val) variant details
- p.Ala16Val
- rs1297962291
- NCI-TCGA Cosmic COSV5350
- cosmic curated COSV53500
- Ensembl rs1297962291
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.17
- CADD 21.20
- PolyPhen-2 0.00
- SIFT 0.50
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available