D41N (p.Asp41Asn) variant of SIX1 (Homeobox protein SIX1)
D41N (p.Asp41Asn) in SIX1 (Homeobox protein SIX1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The record also includes variant effect predictions, experimental measurements, and structural context.
D41N (p.Asp41Asn) variant details
- p.Asp41Asn
- NCI-TCGA TCGA novel
- Uncertain significance
- Inborn genetic diseases
- Missense
- SIFT 1.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Structural context available
- SIX1 Homeobox domain domainome 1.0: score 0.324