S48S (p.Ser48Ser) variant of SIX1 (Homeobox protein SIX1)
S48S (p.Ser48Ser) in SIX1 (Homeobox protein SIX1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S48S (p.Ser48Ser) variant details
- p.Ser48Ser
- gnomAD 14-60649046-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.479
- CADD 14.60
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- SIX1 Homeobox domain domainome 1.0: score -0.0256
- Literature evidence available