A52T (p.Ala52Thr) variant of PCDH19 (Protocadherin-19)
A52T (p.Ala52Thr) 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 0.22 / 1. The record also includes population frequency data and structural context.
A52T (p.Ala52Thr) variant details
- p.Ala52Thr
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.03
- CADD 17.90
- PolyPhen-2 0.15
- SIFT 0.35
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.8e-05)
- Structural context available