A22V (p.Ala22Val) variant of SUFU (Suppressor of fused homolog)
A22V (p.Ala22Val) 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 Hereditary cancer-predisposing syndrome; Gorlin syndrome; Medulloblastoma. 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.
A22V (p.Ala22Val) variant details
- p.Ala22Val
- rs761240106
- ClinGen CA212238105
- ClinVar RCV000795767
- ClinVar RCV004027536
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Gorlin syndrome; Medulloblastoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.17
- CADD 23.60
- PolyPhen-2 0.48
- SIFT 0.18
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Gorlin syndrome; Medull)
- EBI: Benign
- UniProt: Benign
- Most common in the East Asian population (allele frequency 2.5e-05)
- 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)