F26L (p.Phe26Leu) variant of ARID2 (Q68CP9)
F26L (p.Phe26Leu) in ARID2 (Q68CP9) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
F26L (p.Phe26Leu) variant details
- p.Phe26Leu
- NCI-TCGA Cosmic COSV5760
- NCI-TCGA Cosmic COSV5761
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.639
- REVEL 0.67
- MetaLR 0.47
- MetaSVM -0.19
- CADD 25.90
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available