V40A (p.Val40Ala) variant of ARID2 (Q68CP9)
V40A (p.Val40Ala) in ARID2 (Q68CP9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
V40A (p.Val40Ala) variant details
- p.Val40Ala
- gnomAD 12-45730070-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.37
- MetaLR 0.25
- MetaSVM -0.63
- CADD 23.20
- PolyPhen-2 0.11
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available