K36R (p.Lys36Arg) variant of ARID2 (Q68CP9)
K36R (p.Lys36Arg) in ARID2 (Q68CP9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
K36R (p.Lys36Arg) variant details
- p.Lys36Arg
- gnomAD 12-45730058-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- REVEL 0.24
- MetaLR 0.21
- MetaSVM -0.87
- CADD 23.40
- PolyPhen-2 0.99
- SIFT 0.22
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available