M3I (p.Met3Ile) variant of SMARCB1 (Q12824)
M3I (p.Met3Ile) in SMARCB1 (Q12824) is a missense change. Clinical records from ClinVar, EBI, 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 0.71 / 1. The record also includes population frequency data, experimental measurements, and structural context.
M3I (p.Met3Ile) variant details
- p.Met3Ile
- ExAC rs748542371
- gnomAD rs748542371
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.712
- CADD 24.20
- PolyPhen-2 0.00
- SIFT 0.03
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score 0.0021