A82T (p.Ala82Thr) variant of DCX (O43602)
A82T (p.Ala82Thr) in DCX (O43602) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
A82T (p.Ala82Thr) variant details
- p.Ala82Thr
- rs1305044719
- NCI-TCGA Cosmic COSV5757
- cosmic curated COSV57573
- gnomAD rs1305044719
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.677
- CADD 22.90
- PolyPhen-2 0.36
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available