T30S (p.Thr30Ser) variant of DCX (O43602)
T30S (p.Thr30Ser) in DCX (O43602) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
T30S (p.Thr30Ser) variant details
- p.Thr30Ser
- gnomAD X-111410310-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- CADD 20.20
- PolyPhen-2 0.04
- SIFT 0.42
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Literature evidence available