E23Q (p.Glu23Gln) variant of ARID1A (O14497)
E23Q (p.Glu23Gln) 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 0.38 / 1. The record also includes population frequency data and structural context.
E23Q (p.Glu23Gln) variant details
- p.Glu23Gln
- Ensembl rs1557569082
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.20
- MetaLR 0.02
- MetaSVM -0.99
- CADD 25.10
- PolyPhen-2 0.61
- SIFT 0.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available