A2S (p.Ala2Ser) variant of ARID1A (O14497)
A2S (p.Ala2Ser) in ARID1A (O14497) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
A2S (p.Ala2Ser) variant details
- p.Ala2Ser
- TOPMed rs1333869920
- gnomAD rs1333869920
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.05
- MetaLR 0.02
- MetaSVM -0.92
- CADD 23.50
- PolyPhen-2 0.30
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 4.5e-05)
- Structural context available