L24Q (p.Leu24Gln) variant of ARID1A (O14497)
L24Q (p.Leu24Gln) in ARID1A (O14497) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
L24Q (p.Leu24Gln) variant details
- p.Leu24Gln
- TOPMed rs2080254294
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.08
- MetaLR 0.03
- MetaSVM -1.02
- CADD 26.60
- PolyPhen-2 0.72
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.1e-06)
- Structural context available