L13V (p.Leu13Val) variant of ERBB4 (Q15303)
L13V (p.Leu13Val) in ERBB4 (Q15303) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
L13V (p.Leu13Val) variant details
- p.Leu13Val
- ExAC rs749917244
- gnomAD rs749917244
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.12
- CADD 22.40
- PolyPhen-2 0.02
- SIFT 0.43
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00015)
- Structural context available