R36H (p.Arg36His) variant of AICDA (Q9GZX7)
R36H (p.Arg36His) in AICDA (Q9GZX7) 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 0.48 / 1. The record also includes population frequency data and structural context.
R36H (p.Arg36His) variant details
- p.Arg36His
- rs759799595
- NCI-TCGA Cosmic COSV5756
- cosmic curated COSV57563
- 1000Genomes rs759799595
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.33
- MetaLR 0.32
- MetaSVM -0.56
- CADD 22.60
- PolyPhen-2 1.00
- SIFT 0.12
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available