H56R (p.His56Arg) variant of AICDA (Q9GZX7)
H56R (p.His56Arg) in AICDA (Q9GZX7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
H56R (p.His56Arg) variant details
- p.His56Arg
- gnomAD 12-8605475-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.75
- REVEL 0.96
- MetaLR 0.55
- MetaSVM 0.30
- CADD 25.80
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available