L13R (p.Leu13Arg) variant of ARID1A (O14497)
L13R (p.Leu13Arg) in ARID1A (O14497) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
L13R (p.Leu13Arg) variant details
- p.Leu13Arg
- gnomAD 1-26696441-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.12
- MetaLR 0.01
- MetaSVM -0.85
- CADD 23.40
- PolyPhen-2 0.23
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available
- Literature evidence available