K8N (p.Lys8Asn) variant of SMARCB1 (Q12824)
K8N (p.Lys8Asn) in SMARCB1 (Q12824) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, experimental measurements, and structural context.
K8N (p.Lys8Asn) variant details
- p.Lys8Asn
- NCI-TCGA Cosmic COSV5315
- cosmic curated COSV53157
- Ensembl rs2145951974
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.702
- CADD 31.00
- PolyPhen-2 0.78
- SIFT 0.01
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- SMARCB1 SNF5/SMARCB1/INI1 domain domainome 1.0: score -0.55