S48G (p.Ser48Gly) variant of SIX1 (Homeobox protein SIX1)
S48G (p.Ser48Gly) in SIX1 (Homeobox protein SIX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S48G (p.Ser48Gly) variant details
- p.Ser48Gly
- gnomAD 14-60649048-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.639
- CADD 27.20
- PolyPhen-2 0.46
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- SIX1 Homeobox domain domainome 1.0: score -0.0256
- Literature evidence available