A48G (p.Ala48Gly) variant of ERBB4 (Q15303)
A48G (p.Ala48Gly) in ERBB4 (Q15303) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
A48G (p.Ala48Gly) variant details
- p.Ala48Gly
- Ensembl rs2125571236
- Missense
- Variant Prioritization Score for Impact Estimate 0.539
- REVEL 0.39
- CADD 24.60
- PolyPhen-2 0.06
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available