R17P (p.Arg17Pro) variant of ARID1B (Q8NFD5)
R17P (p.Arg17Pro) in ARID1B (Q8NFD5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
R17P (p.Arg17Pro) variant details
- p.Arg17Pro
- TOPMed rs1021302619
- gnomAD rs1021302619
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- CADD 13.90
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available