T5R (p.Thr5Arg) variant of ARID2 (Q68CP9)
T5R (p.Thr5Arg) in ARID2 (Q68CP9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
T5R (p.Thr5Arg) variant details
- p.Thr5Arg
- gnomAD 12-45729850-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.21
- MetaLR 0.12
- MetaSVM -0.94
- CADD 24.60
- PolyPhen-2 0.99
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available