V42L (p.Val42Leu) variant of PCDH19 (Protocadherin-19)
V42L (p.Val42Leu) in PCDH19 (Protocadherin-19) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
V42L (p.Val42Leu) variant details
- p.Val42Leu
- ExAC rs767840869
- gnomAD rs767840869
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.15
- AlphaMissense 0.82
- MetaLR 0.19
- MetaSVM -0.72
- CADD 21.20
- PolyPhen-2 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available