S11G (p.Ser11Gly) variant of ARID1A (O14497)
S11G (p.Ser11Gly) in ARID1A (O14497) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
S11G (p.Ser11Gly) variant details
- p.Ser11Gly
- TOPMed rs1234998421
- gnomAD rs1234998421
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.08
- MetaLR 0.01
- MetaSVM -0.55
- CADD 22.40
- PolyPhen-2 0.07
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available