Q4E (p.Gln4Glu) variant of ARID1A (O14497)
Q4E (p.Gln4Glu) in ARID1A (O14497) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
Q4E (p.Gln4Glu) variant details
- p.Gln4Glu
- gnomAD 1-26696413-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.08
- CADD 22.80
- PolyPhen-2 0.10
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 3.2e-06)
- Structural context available
- Literature evidence available