S50G (p.Ser50Gly) variant of PCDH15 (Protocadherin-15)
S50G (p.Ser50Gly) in PCDH15 (Protocadherin-15) 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 0.51 / 1. The record also includes population frequency data.
S50G (p.Ser50Gly) variant details
- p.Ser50Gly
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- MetaLR 0.28
- MetaSVM -0.31
- CADD 23.10
- PolyPhen-2 0.03
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)