L60V (p.Leu60Val) variant of AICDA (Q9GZX7)
L60V (p.Leu60Val) in AICDA (Q9GZX7) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
L60V (p.Leu60Val) variant details
- p.Leu60Val
- TOPMed rs1941271183
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.12
- MetaLR 0.16
- MetaSVM -0.96
- CADD 17.60
- PolyPhen-2 0.02
- SIFT 0.11
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available