R15W (p.Arg15Trp) variant of ARID1B (Q8NFD5)
R15W (p.Arg15Trp) 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.
R15W (p.Arg15Trp) variant details
- p.Arg15Trp
- gnomAD rs1270815175
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- CADD 13.70
- PolyPhen-2 0.00
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available