T55A (p.Thr55Ala) variant of ARID2 (Q68CP9)
T55A (p.Thr55Ala) in ARID2 (Q68CP9) 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.
T55A (p.Thr55Ala) variant details
- p.Thr55Ala
- gnomAD 12-45730114-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.18
- MetaLR 0.26
- MetaSVM -0.63
- CADD 23.40
- PolyPhen-2 0.68
- SIFT 0.03
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available