L17F (p.Leu17Phe) variant of ARID2 (Q68CP9)
L17F (p.Leu17Phe) in ARID2 (Q68CP9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
L17F (p.Leu17Phe) variant details
- p.Leu17Phe
- TOPMed rs1418993336
- gnomAD rs1418993336
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.23
- MetaLR 0.27
- MetaSVM -0.53
- CADD 23.00
- PolyPhen-2 0.69
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available