L91M (p.Leu91Met) variant of PCDH19 (Protocadherin-19)
L91M (p.Leu91Met) in PCDH19 (Protocadherin-19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
L91M (p.Leu91Met) variant details
- p.Leu91Met
- ExAC rs746627230
- TOPMed rs746627230
- gnomAD rs746627230
- Missense
- Variant Prioritization Score for Impact Estimate 0.127
- REVEL 0.01
- CADD 14.70
- PolyPhen-2 0.08
- SIFT 0.10
- Most common in the South Asian population (allele frequency 1.8e-05)
- Structural context available