R63S (p.Arg63Ser) variant of AICDA (Q9GZX7)
R63S (p.Arg63Ser) in AICDA (Q9GZX7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
R63S (p.Arg63Ser) variant details
- p.Arg63Ser
- gnomAD 12-8605455-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.22
- MetaLR 0.12
- MetaSVM -1.02
- CADD 23.00
- PolyPhen-2 0.02
- SIFT 0.22
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available