L13V (p.Leu13Val) variant of ARID1A (O14497)
L13V (p.Leu13Val) in ARID1A (O14497) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
L13V (p.Leu13Val) variant details
- p.Leu13Val
- TOPMed rs1343731961
- gnomAD rs1343731961
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- REVEL 0.07
- MetaLR 0.01
- MetaSVM -0.90
- CADD 15.80
- PolyPhen-2 0.00
- SIFT 0.01
- Population evidence available
- Structural context available