K10R (p.Lys10Arg) variant of AICDA (Q9GZX7)
K10R (p.Lys10Arg) in AICDA (Q9GZX7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hyper-IgM syndrome type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
K10R (p.Lys10Arg) variant details
- p.Lys10Arg
- rs768249578
- ClinGen CA6434521
- ClinVar RCV000307490
- ExAC rs768249578
- Uncertain significance
- Hyper-IgM syndrome type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.11
- MetaLR 0.23
- MetaSVM -0.77
- CADD 21.60
- PolyPhen-2 0.04
- SIFT 0.26
- ClinVar: Uncertain significance (Hyper-IgM syndrome type 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available