S128G (p.Ser128Gly) variant of PCDH19 (Protocadherin-19)
S128G (p.Ser128Gly) 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 0.33 / 1. The record also includes population frequency data and structural context.
S128G (p.Ser128Gly) variant details
- p.Ser128Gly
- rs762647337
- NCI-TCGA Cosmic COSV5526
- cosmic curated COSV55263
- ExAC rs762647337
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- AlphaMissense 0.12
- MetaLR 0.08
- MetaSVM -1.08
- PolyPhen-2 0.27
- SIFT 0.05
- EVE 0.37
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available