A66T (p.Ala66Thr) variant of NKX2-1 (Homeobox protein Nkx-2.1)
A66T (p.Ala66Thr) in NKX2-1 (Homeobox protein Nkx-2.1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of NKX2-1-Related Disorders. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
A66T (p.Ala66Thr) variant details
- p.Ala66Thr
- cosmic curated COSV61389
- Ensembl rs2139412117
- Uncertain significance
- NKX2-1-Related Disorders
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.28
- CADD 24.20
- PolyPhen-2 0.61
- SIFT 0.09
- ClinVar: Uncertain significance (NKX2-1-Related Disorders)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available