R17Q (p.Arg17Gln) variant of ARID1B (Q8NFD5)
R17Q (p.Arg17Gln) 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.
R17Q (p.Arg17Gln) variant details
- p.Arg17Gln
- TOPMed rs1021302619
- gnomAD rs1021302619
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- CADD 14.20
- PolyPhen-2 0.00
- SIFT 0.02
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available