A30V (p.Ala30Val) variant of ERBB4 (Q15303)
A30V (p.Ala30Val) in ERBB4 (Q15303) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
A30V (p.Ala30Val) variant details
- p.Ala30Val
- Ensembl rs2125571751
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- REVEL 0.21
- CADD 22.50
- PolyPhen-2 0.08
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available