S76* (p.Ser76Ter) variant of SIX1 (Homeobox protein SIX1)
S76* (p.Ser76Ter) in SIX1 (Homeobox protein SIX1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
S76* (p.Ser76Ter) variant details
- p.Ser76Ter
- gnomAD 14-60648963-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.751
- CADD 37.00
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Literature evidence available