L29R (p.Leu29Arg) variant of AICDA (Q9GZX7)
L29R (p.Leu29Arg) 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 0.83 / 1. The record also includes population frequency data and structural context.
L29R (p.Leu29Arg) variant details
- p.Leu29Arg
- NCI-TCGA Cosmic COSV5756
- cosmic curated COSV57566
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.829
- REVEL 0.96
- MetaLR 0.77
- MetaSVM 0.76
- CADD 28.10
- PolyPhen-2 0.99
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available