A18G (p.Ala18Gly) variant of ARID1B (Q8NFD5)
A18G (p.Ala18Gly) in ARID1B (Q8NFD5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
A18G (p.Ala18Gly) variant details
- p.Ala18Gly
- gnomAD rs964449228
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- CADD 15.10
- PolyPhen-2 0.00
- SIFT 0.27
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available