L11M (p.Leu11Met) variant of PCDH19 (Protocadherin-19)
L11M (p.Leu11Met) in PCDH19 (Protocadherin-19) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. 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.
L11M (p.Leu11Met) variant details
- p.Leu11Met
- ExAC rs775517393
- gnomAD rs775517393
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.20
- CADD 22.80
- PolyPhen-2 0.50
- SIFT 0.10
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.00026)
- Structural context available