R17L (p.Arg17Leu) variant of ARID1B (Q8NFD5)
R17L (p.Arg17Leu) in ARID1B (Q8NFD5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
R17L (p.Arg17Leu) variant details
- p.Arg17Leu
- gnomAD 6-156777730-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- CADD 13.80
- PolyPhen-2 0.00
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available