E24K (p.Glu24Lys) variant of ARID1B (Q8NFD5)
E24K (p.Glu24Lys) in ARID1B (Q8NFD5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data.
E24K (p.Glu24Lys) variant details
- p.Glu24Lys
- rs1212813613
- ClinGen CA366381061
- ClinVar RCV002922729
- gnomAD rs1212813613
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- AlphaMissense 0.45
- MetaLR 0.00
- MetaSVM -0.64
- SIFT 0.00
- MutPred 0.24
- ClinVar: Benign (not provided)
- EBI: Benign
- UniProt: Benign
- Population evidence available