A76T (p.Ala76Thr) variant of NKX2-5 (Homeobox protein Nkx-2.5)
A76T (p.Ala76Thr) in NKX2-5 (Homeobox protein Nkx-2.5) 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 0.37 / 1. The record also includes population frequency data and structural context.
A76T (p.Ala76Thr) variant details
- p.Ala76Thr
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.32
- CADD 13.00
- PolyPhen-2 0.01
- SIFT 0.57
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available