L57F (p.Leu57Phe) variant of ARID2 (Q68CP9)
L57F (p.Leu57Phe) in ARID2 (Q68CP9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
L57F (p.Leu57Phe) variant details
- p.Leu57Phe
- TOPMed rs995317060
- gnomAD rs995317060
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.18
- MetaLR 0.26
- MetaSVM -0.67
- CADD 23.70
- PolyPhen-2 1.00
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available