A89S (p.Ala89Ser) variant of NKX2-5 (Homeobox protein Nkx-2.5)
A89S (p.Ala89Ser) 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 0.26 / 1. The record also includes population frequency data and structural context.
A89S (p.Ala89Ser) variant details
- p.Ala89Ser
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.14
- CADD 14.10
- PolyPhen-2 0.00
- SIFT 0.60
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available