P55A (p.Pro55Ala) variant of PCDH19 (Protocadherin-19)
P55A (p.Pro55Ala) 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 0.23 / 1. The record also includes population frequency data and structural context.
P55A (p.Pro55Ala) variant details
- p.Pro55Ala
- ExAC rs774662487
- TOPMed rs774662487
- gnomAD rs774662487
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.02
- CADD 5.97
- PolyPhen-2 0.00
- SIFT 0.53
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available