A27D (p.Ala27Asp) variant of SUFU (Suppressor of fused homolog)
A27D (p.Ala27Asp) 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 0.32 / 1. The record also includes population frequency data and structural context.
A27D (p.Ala27Asp) variant details
- p.Ala27Asp
- gnomAD rs1664857380
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.07
- AlphaMissense 0.45
- MetaLR 0.15
- MetaSVM -0.85
- CADD 22.90
- PolyPhen-2 0.08
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available