L70V (p.Leu70Val) variant of AICDA (Q9GZX7)
L70V (p.Leu70Val) 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 0.40 / 1. The record also includes population frequency data and structural context.
L70V (p.Leu70Val) variant details
- p.Leu70Val
- rs929345572
- ClinGen CA383819325
- ClinVar RCV001922056
- TOPMed rs929345572
- Uncertain significance
- Hyper-IgM syndrome type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.38
- MetaLR 0.34
- MetaSVM -0.27
- CADD 23.50
- PolyPhen-2 0.59
- SIFT 0.04
- 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 1.8e-06)
- Structural context available