R36L (p.Arg36Leu) variant of AICDA (Q9GZX7)
R36L (p.Arg36Leu) in AICDA (Q9GZX7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
R36L (p.Arg36Leu) variant details
- p.Arg36Leu
- gnomAD 12-8606914-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- REVEL 0.40
- MetaLR 0.20
- MetaSVM -0.86
- CADD 21.60
- PolyPhen-2 1.00
- SIFT 0.56
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available