R15P (p.Arg15Pro) variant of ARID1B (Q8NFD5)
R15P (p.Arg15Pro) in ARID1B (Q8NFD5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. 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.
R15P (p.Arg15Pro) variant details
- p.Arg15Pro
- gnomAD rs891652115
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.189
- CADD 13.10
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available