P18L (p.Pro18Leu) variant of ARID1A (O14497)
P18L (p.Pro18Leu) in ARID1A (O14497) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
P18L (p.Pro18Leu) variant details
- p.Pro18Leu
- gnomAD 1-26696456-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.10
- MetaLR 0.01
- MetaSVM -0.54
- CADD 23.90
- PolyPhen-2 0.35
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available
- Literature evidence available