A5T (p.Ala5Thr) variant of SMARCB1 (Q12824)
A5T (p.Ala5Thr) in SMARCB1 (Q12824) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A5T (p.Ala5Thr) variant details
- p.Ala5Thr
- cosmic curated COSV53156
- Ensembl rs1928040877
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.765
- AlphaMissense 0.40
- MetaLR 0.85
- MetaSVM 0.78
- CADD 31.00
- PolyPhen-2 0.03
- SIFT 0.08
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score -0.0955