K26R (p.Lys26Arg) variant of PCDH19 (Protocadherin-19)
K26R (p.Lys26Arg) 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 0.40 / 1. The record also includes population frequency data and structural context.
K26R (p.Lys26Arg) variant details
- p.Lys26Arg
- ExAC rs755403368
- TOPMed rs755403368
- gnomAD rs755403368
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.30
- AlphaMissense 0.73
- MetaLR 0.21
- MetaSVM -0.66
- CADD 23.20
- PolyPhen-2 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available