G11A (p.Gly11Ala) variant of SUFU (Suppressor of fused homolog)
G11A (p.Gly11Ala) 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 0.31 / 1. The record also includes population frequency data and structural context.
G11A (p.Gly11Ala) variant details
- p.Gly11Ala
- gnomAD rs1227379293
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.15
- AlphaMissense 0.07
- MetaLR 0.27
- MetaSVM -0.74
- CADD 21.60
- PolyPhen-2 0.95
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 8e-05)
- Structural context available