A4T (p.Ala4Thr) variant of ERBB2 (P04626)
A4T (p.Ala4Thr) in ERBB2 (P04626) 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 0.37 / 1. The record also includes population frequency data and structural context.
A4T (p.Ala4Thr) variant details
- p.Ala4Thr
- TOPMed rs1039589946
- gnomAD rs1039589946
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.22
- CADD 22.80
- PolyPhen-2 0.02
- SIFT 0.11
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.7e-07)
- Structural context available