S7N (p.Ser7Asn) variant of SUFU (Suppressor of fused homolog)
S7N (p.Ser7Asn) 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 Gorlin syndrome; Medulloblastoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
S7N (p.Ser7Asn) variant details
- p.Ser7Asn
- gnomAD rs1449152687
- Uncertain significance
- Gorlin syndrome; Medulloblastoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.14
- CADD 24.00
- PolyPhen-2 0.01
- SIFT 0.03
- ClinVar: Uncertain significance (Gorlin syndrome; Medulloblastoma)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available