V54I (p.Val54Ile) variant of ARID2 (Q68CP9)
V54I (p.Val54Ile) in ARID2 (Q68CP9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
V54I (p.Val54Ile) variant details
- p.Val54Ile
- gnomAD rs1265019728
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- REVEL 0.55
- MetaLR 0.56
- MetaSVM 0.04
- CADD 24.60
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available