A4V (p.Ala4Val) variant of ERBB4 (Q15303)
A4V (p.Ala4Val) in ERBB4 (Q15303) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
A4V (p.Ala4Val) variant details
- p.Ala4Val
- cosmic curated COSV53498
- ExAC rs748663394
- TOPMed rs748663394
- gnomAD rs748663394
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.36
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.06
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.2e-05)
- Structural context available