S65F (p.Ser65Phe) variant of PCDH19 (Protocadherin-19)
S65F (p.Ser65Phe) in PCDH19 (Protocadherin-19) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
S65F (p.Ser65Phe) variant details
- p.Ser65Phe
- rs769833284
- ClinGen CA10469008
- ClinVar RCV001752392
- ExAC rs769833284
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- REVEL 0.44
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.0001)
- Structural context available