T40I (p.Thr40Ile) variant of DCX (O43602)
T40I (p.Thr40Ile) in DCX (O43602) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
T40I (p.Thr40Ile) variant details
- p.Thr40Ile
- rs2147276605
- ClinGen CA414247071
- ClinVar RCV001507542
- Ensembl rs2147276605
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.712
- CADD 26.10
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available