I37V (p.Ile37Val) variant of SUFU (Suppressor of fused homolog)
I37V (p.Ile37Val) 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 Hereditary cancer-predisposing syndrome; Familial meningioma; Gorlin syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
I37V (p.Ile37Val) variant details
- p.Ile37Val
- rs745793517
- ClinGen CA5667594
- ClinVar RCV001057455
- ClinVar RCV002451239
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Familial meningioma; Gorlin syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.48
- AlphaMissense 0.28
- MetaLR 0.32
- MetaSVM -0.65
- CADD 24.10
- PolyPhen-2 0.00
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Familial meningioma; Go)
- EBI: Benign (in dbSNP:rs745793517)
- UniProt: Benign (in dbSNP:rs745793517)
- Most common in the HGDP:HAN population (allele frequency 0.016)
- Structural context available
- Cited in: Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial… (PMID 28965847)
- Cited in: MN1 C-Terminal Truncation Syndrome. (PMID 32790267)