R53K (p.Arg53Lys) variant of ARID2 (Q68CP9)
R53K (p.Arg53Lys) in ARID2 (Q68CP9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
R53K (p.Arg53Lys) variant details
- p.Arg53Lys
- gnomAD rs1212941812
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.27
- MetaLR 0.19
- MetaSVM -0.76
- CADD 23.60
- PolyPhen-2 0.97
- SIFT 0.23
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available