P20S (p.Pro20Ser) variant of SUFU (Suppressor of fused homolog)
P20S (p.Pro20Ser) 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 0.27 / 1. The record also includes population frequency data and structural context.
P20S (p.Pro20Ser) variant details
- p.Pro20Ser
- gnomAD rs936379170
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.06
- AlphaMissense 0.07
- MetaLR 0.13
- MetaSVM -0.82
- CADD 21.00
- PolyPhen-2 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available