P38L (p.Pro38Leu) variant of ARID2 (Q68CP9)
P38L (p.Pro38Leu) in ARID2 (Q68CP9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
P38L (p.Pro38Leu) variant details
- p.Pro38Leu
- ExAC rs768151419
- gnomAD rs768151419
- Missense
- Variant Prioritization Score for Impact Estimate 0.745
- REVEL 0.76
- MetaLR 0.76
- MetaSVM 0.65
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available