K7E (p.Lys7Glu) variant of ARID2 (Q68CP9)
K7E (p.Lys7Glu) 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.
K7E (p.Lys7Glu) variant details
- p.Lys7Glu
- gnomAD 12-45729855-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.10
- MetaLR 0.11
- MetaSVM -1.04
- CADD 25.60
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available