T56S (p.Thr56Ser) variant of ARID2 (Q68CP9)
T56S (p.Thr56Ser) in ARID2 (Q68CP9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
T56S (p.Thr56Ser) variant details
- p.Thr56Ser
- gnomAD 12-45730118-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.05
- MetaLR 0.06
- MetaSVM -1.10
- CADD 17.60
- PolyPhen-2 0.11
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available