A21V (p.Ala21Val) variant of ERBB2 (P04626)
A21V (p.Ala21Val) 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 0.27 / 1. The record also includes population frequency data and structural context.
A21V (p.Ala21Val) variant details
- p.Ala21Val
- TOPMed rs1004896536
- gnomAD rs1004896536
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.19
- AlphaMissense 0.17
- MetaLR 0.25
- MetaSVM -0.67
- CADD 18.30
- PolyPhen-2 0.52
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9.6e-05)
- Structural context available