L13Q (p.Leu13Gln) variant of ARID1A (O14497)
L13Q (p.Leu13Gln) in ARID1A (O14497) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
L13Q (p.Leu13Gln) variant details
- p.Leu13Gln
- gnomAD 1-26696441-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.14
- MetaLR 0.01
- MetaSVM -0.83
- CADD 23.30
- PolyPhen-2 0.23
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available