Q4H (p.Gln4His) variant of ARID1A (O14497)
Q4H (p.Gln4His) in ARID1A (O14497) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
Q4H (p.Gln4His) variant details
- p.Gln4His
- cosmic curated COSV10520
- NCI-TCGA TCGA novel
- TOPMed rs2080253049
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.06
- MetaLR 0.01
- MetaSVM -0.92
- CADD 23.10
- PolyPhen-2 0.01
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available