A27V (p.Ala27Val) variant of SUFU (Suppressor of fused homolog)
A27V (p.Ala27Val) in SUFU (Suppressor of fused homolog) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Medulloblastoma; Gorlin syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes published literature and structural context.
A27V (p.Ala27Val) variant details
- p.Ala27Val
- rs1664857380
- ClinGen CA377886386
- ClinVar RCV001999120
- gnomAD rs1664857380
- Uncertain significance
- Medulloblastoma; Gorlin syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- AlphaMissense 0.45
- MetaLR 0.15
- MetaSVM -0.85
- PolyPhen-2 0.08
- SIFT 0.02
- EVE 0.09
- ClinVar: Uncertain significance (Medulloblastoma; Gorlin syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)
- Cited in: Nevoid Basal Cell Carcinoma Syndrome. (PMID 20301330)