L7V (p.Leu7Val) variant of ERBB4 (Q15303)
L7V (p.Leu7Val) in ERBB4 (Q15303) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
L7V (p.Leu7Val) variant details
- p.Leu7Val
- Ensembl rs2106366396
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.24
- CADD 22.90
- PolyPhen-2 0.74
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available