F25L (p.Phe25Leu) variant of SMARCB1 (Q12824)
F25L (p.Phe25Leu) in SMARCB1 (Q12824) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, experimental measurements, and structural context.
F25L (p.Phe25Leu) variant details
- p.Phe25Leu
- cosmic curated COSV10583
- NCI-TCGA Cosmic COSV5315
- cosmic curated COSV53156
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- CADD 23.10
- PolyPhen-2 0.00
- SIFT 0.61
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score -0.326