S22R (p.Ser22Arg) variant of ARID1B (Q8NFD5)
S22R (p.Ser22Arg) in ARID1B (Q8NFD5) 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 published literature.
S22R (p.Ser22Arg) variant details
- p.Ser22Arg
- gnomAD 6-156777744-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.18
- CADD 17.10
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Literature evidence available