R4L (p.Arg4Leu) variant of ARID1B (Q8NFD5)
R4L (p.Arg4Leu) in ARID1B (Q8NFD5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
R4L (p.Arg4Leu) variant details
- p.Arg4Leu
- gnomAD 6-156777691-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- CADD 16.60
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available