P16S (p.Pro16Ser) variant of SUFU (Suppressor of fused homolog)
P16S (p.Pro16Ser) in SUFU (Suppressor of fused homolog) 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 0.33 / 1. The record also includes population frequency data and structural context.
P16S (p.Pro16Ser) variant details
- p.Pro16Ser
- TOPMed rs978312925
- gnomAD rs978312925
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.10
- AlphaMissense 0.07
- MetaLR 0.13
- MetaSVM -1.00
- CADD 20.00
- PolyPhen-2 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available