K8E (p.Lys8Glu) variant of SMARCB1 (Q12824)
K8E (p.Lys8Glu) in SMARCB1 (Q12824) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, experimental measurements, and structural context.
K8E (p.Lys8Glu) variant details
- p.Lys8Glu
- rs2145951968
- ClinGen CA410930515
- ClinVar RCV001883804
- Ensembl rs2145951968
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- CADD 25.70
- PolyPhen-2 0.44
- SIFT 0.05
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- 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 -0.55