R15Q (p.Arg15Gln) variant of ARID1B (Q8NFD5)
R15Q (p.Arg15Gln) in ARID1B (Q8NFD5) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
R15Q (p.Arg15Gln) variant details
- p.Arg15Gln
- gnomAD rs891652115
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- CADD 13.40
- PolyPhen-2 0.00
- SIFT 0.02
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available