S12I (p.Ser12Ile) variant of ARID1A (O14497)
S12I (p.Ser12Ile) in ARID1A (O14497) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
S12I (p.Ser12Ile) variant details
- p.Ser12Ile
- TOPMed rs1342376116
- gnomAD rs1342376116
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.07
- MetaLR 0.01
- MetaSVM -0.85
- CADD 23.00
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available