A9V (p.Ala9Val) variant of SUFU (Suppressor of fused homolog)
A9V (p.Ala9Val) in SUFU (Suppressor of fused homolog) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Gorlin syndrome; Medulloblastoma; Familial meningioma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
A9V (p.Ala9Val) variant details
- p.Ala9Val
- rs775491374
- ClinGen CA377886134
- ClinVar RCV000628510
- ClinVar RCV001016349
- Conflicting interpretations
- Gorlin syndrome; Medulloblastoma; Familial meningioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.11
- CADD 22.30
- PolyPhen-2 0.08
- SIFT 0.13
- ClinVar: Conflicting classifications of pathogenicity (Gorlin syndrome; Medulloblastoma; Familial meningioma)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 8.4e-05)
- Structural context available
- Cited in: MN1 C-Terminal Truncation Syndrome. (PMID 32790267)
- Cited in: Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. (PMID 15604628)