K268E (p.Lys268Glu) variant of SMC1A (Q14683)
K268E (p.Lys268Glu) in SMC1A (Q14683) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
K268E (p.Lys268Glu) variant details
- p.Lys268Glu
- rs1569359008
- ClinGen CA413258385
- ClinVar RCV002255033
- Ensembl rs1569359008
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.601
- REVEL 0.60
- ESM-1b 1.00
- AlphaMissense 0.93
- MetaLR 0.51
- MetaSVM 0.12
- CADD 23.70
- ClinVar: Likely benign (not provided)
- EBI: Likely benign (in CDLS2)
- UniProt: Likely benign (in CDLS2)
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available