L13M (p.Leu13Met) variant of ARID1A (O14497)
L13M (p.Leu13Met) in ARID1A (O14497) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
L13M (p.Leu13Met) variant details
- p.Leu13Met
- gnomAD 1-26696440-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- REVEL 0.09
- MetaLR 0.01
- MetaSVM -0.80
- CADD 17.00
- PolyPhen-2 0.17
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available