P69A (p.Pro69Ala) variant of PCDH19 (Protocadherin-19)
P69A (p.Pro69Ala) in PCDH19 (Protocadherin-19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
P69A (p.Pro69Ala) variant details
- p.Pro69Ala
- TOPMed rs1457943470
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.10
- CADD 24.40
- PolyPhen-2 0.48
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available