R25H (p.Arg25His) variant of AICDA (Q9GZX7)
R25H (p.Arg25His) in AICDA (Q9GZX7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not specified; Hyper-IgM syndrome type 2; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
R25H (p.Arg25His) variant details
- p.Arg25His
- rs61730095
- ClinGen CA6434517
- cosmic curated COSV57563
- ClinVar RCV000639379
- Benign/Likely benign
- not specified; Hyper-IgM syndrome type 2; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.10
- MetaLR 0.01
- MetaSVM -1.04
- CADD 17.50
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Benign/Likely benign (not specified; Hyper-IgM syndrome type 2; not provided)
- EBI: Benign (in dbSNP:rs1404944797)
- UniProt: Benign (in dbSNP:rs1404944797)
- Most common in the 1KG:MSL population (allele frequency 0.044)
- Structural context available