A14P (p.Ala14Pro) variant of SUFU (Suppressor of fused homolog)
A14P (p.Ala14Pro) in SUFU (Suppressor of fused homolog) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
A14P (p.Ala14Pro) variant details
- p.Ala14Pro
- cosmic curated COSV64015
- gnomAD rs1460606381
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.11
- AlphaMissense 0.08
- MetaLR 0.19
- MetaSVM -0.81
- CADD 22.60
- PolyPhen-2 0.06
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- UniProt: Uncertain significance
- Most common in the 1KG:CHB population (allele frequency 0.042)
- Structural context available