A4V (p.Ala4Val) variant of ERBB2 (P04626)
A4V (p.Ala4Val) in ERBB2 (P04626) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
A4V (p.Ala4Val) variant details
- p.Ala4Val
- TOPMed rs1428243929
- gnomAD rs1428243929
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.23
- CADD 23.50
- PolyPhen-2 0.05
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available