A39V (p.Ala39Val) variant of ARID2 (Q68CP9)
A39V (p.Ala39Val) in ARID2 (Q68CP9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
A39V (p.Ala39Val) variant details
- p.Ala39Val
- gnomAD 12-45730067-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.04
- MetaLR 0.05
- MetaSVM -1.11
- CADD 19.50
- PolyPhen-2 0.00
- SIFT 0.78
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available