L80Q (p.Leu80Gln) variant of PCDH19 (Protocadherin-19)
L80Q (p.Leu80Gln) in PCDH19 (Protocadherin-19) is a missense change. 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.
L80Q (p.Leu80Gln) variant details
- p.Leu80Gln
- gnomAD rs1405458717
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.20
- CADD 26.20
- PolyPhen-2 0.78
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available