R74L (p.Arg74Leu) variant of AICDA (Q9GZX7)
R74L (p.Arg74Leu) in AICDA (Q9GZX7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
R74L (p.Arg74Leu) variant details
- p.Arg74Leu
- gnomAD 12-8605421-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.14
- MetaLR 0.15
- MetaSVM -0.97
- CADD 21.50
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available