V5L (p.Val5Leu) variant of ARID1A (O14497)
V5L (p.Val5Leu) in ARID1A (O14497) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
V5L (p.Val5Leu) variant details
- p.Val5Leu
- TOPMed rs960279959
- gnomAD rs960279959
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.03
- MetaLR 0.01
- MetaSVM -0.82
- CADD 23.20
- PolyPhen-2 0.05
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available