A39S (p.Ala39Ser) variant of ARID2 (Q68CP9)
A39S (p.Ala39Ser) in ARID2 (Q68CP9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
A39S (p.Ala39Ser) variant details
- p.Ala39Ser
- ExAC rs751021716
- TOPMed rs751021716
- gnomAD rs751021716
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.09
- MetaLR 0.14
- MetaSVM -0.98
- CADD 18.70
- PolyPhen-2 0.12
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available