L57S (p.Leu57Ser) variant of ARID2 (Q68CP9)
L57S (p.Leu57Ser) in ARID2 (Q68CP9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
L57S (p.Leu57Ser) variant details
- p.Leu57Ser
- ExAC rs748244027
- TOPMed rs748244027
- gnomAD rs748244027
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.23
- MetaLR 0.30
- MetaSVM -0.58
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available