A16E (p.Ala16Glu) variant of ARID1B (Q8NFD5)
A16E (p.Ala16Glu) in ARID1B (Q8NFD5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
A16E (p.Ala16Glu) variant details
- p.Ala16Glu
- gnomAD 6-156777727-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- CADD 12.80
- PolyPhen-2 0.00
- SIFT 0.03
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available
- Literature evidence available