E23K (p.Glu23Lys) variant of ARID1A (O14497)
E23K (p.Glu23Lys) in ARID1A (O14497) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
E23K (p.Glu23Lys) variant details
- p.Glu23Lys
- Ensembl rs1557569082
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.16
- MetaLR 0.02
- MetaSVM -0.88
- CADD 24.30
- PolyPhen-2 0.43
- SIFT 0.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available