L29R (p.Leu29Arg) variant of SUFU (Suppressor of fused homolog)
L29R (p.Leu29Arg) 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 Familial meningioma; Medulloblastoma; Gorlin syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
L29R (p.Leu29Arg) variant details
- p.Leu29Arg
- rs2062291773
- ClinGen CA377886411
- ClinVar RCV001046021
- ClinVar RCV002372793
- Uncertain significance
- Familial meningioma; Medulloblastoma; Gorlin syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.30
- CADD 26.10
- PolyPhen-2 0.38
- SIFT 0.03
- ClinVar: Uncertain significance (Familial meningioma; Medulloblastoma; Gorlin syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 3.9e-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)