S22I (p.Ser22Ile) variant of ARID1B (Q8NFD5)
S22I (p.Ser22Ile) in ARID1B (Q8NFD5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data.
S22I (p.Ser22Ile) variant details
- p.Ser22Ile
- TOPMed rs1473297502
- gnomAD rs1473297502
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- CADD 15.30
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 0.00044)