G19S (p.Gly19Ser) variant of VHL (P40337)
G19S (p.Gly19Ser) in VHL (P40337) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
G19S (p.Gly19Ser) variant details
- p.Gly19Ser
- gnomAD rs1382387188
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.15
- AlphaMissense 0.09
- MetaLR 0.36
- MetaSVM -0.61
- CADD 17.20
- PolyPhen-2 0.04
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available