T40K (p.Thr40Lys) variant of AICDA (Q9GZX7)
T40K (p.Thr40Lys) in AICDA (Q9GZX7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
T40K (p.Thr40Lys) variant details
- p.Thr40Lys
- gnomAD 12-8606902-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.26
- MetaLR 0.30
- MetaSVM -0.38
- CADD 23.60
- PolyPhen-2 0.60
- SIFT 0.13
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available