S32L (p.Ser32Leu) variant of ARID2 (Q68CP9)
S32L (p.Ser32Leu) in ARID2 (Q68CP9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
S32L (p.Ser32Leu) variant details
- p.Ser32Leu
- TOPMed rs1261085081
- gnomAD rs1261085081
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.34
- MetaLR 0.28
- MetaSVM -0.56
- CADD 25.60
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available