D54E (p.Asp54Glu) variant of PCDH19 (Protocadherin-19)
D54E (p.Asp54Glu) in PCDH19 (Protocadherin-19) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
D54E (p.Asp54Glu) variant details
- p.Asp54Glu
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.149
- REVEL 0.09
- CADD 15.10
- PolyPhen-2 0.41
- SIFT 0.60
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available