A116T (p.Ala116Thr) variant of NKX2-1 (Homeobox protein Nkx-2.1)
A116T (p.Ala116Thr) in NKX2-1 (Homeobox protein Nkx-2.1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Multiple myeloma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes structural context.
A116T (p.Ala116Thr) variant details
- p.Ala116Thr
- rs1594406727
- ClinGen CA389460348
- cosmic curated COSV10969
- ClinVar RCV000984090
- Likely pathogenic
- Multiple myeloma
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- AlphaMissense 0.14
- MetaLR 0.36
- MetaSVM -0.40
- PolyPhen-2 0.98
- SIFT 0.07
- EVE 0.18
- ClinVar: Likely pathogenic (Multiple myeloma)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available