P7Q (p.Pro7Gln) variant of PCDH19 (Protocadherin-19)
P7Q (p.Pro7Gln) in PCDH19 (Protocadherin-19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
P7Q (p.Pro7Gln) variant details
- p.Pro7Gln
- TOPMed rs1350725154
- gnomAD rs1350725154
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.08
- CADD 15.10
- PolyPhen-2 0.03
- SIFT 0.80
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available