M27T (p.Met27Thr) variant of SMARCB1 (Q12824)
M27T (p.Met27Thr) 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 0.65 / 1. The record also includes population frequency data, experimental measurements, and structural context.
M27T (p.Met27Thr) variant details
- p.Met27Thr
- ExAC rs763994045
- gnomAD rs763994045
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.645
- AlphaMissense 0.98
- MetaLR 0.72
- MetaSVM 0.38
- CADD 25.00
- PolyPhen-2 0.90
- SIFT 0.04
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score -0.832