N79S (p.Asn79Ser) variant of SIX1 (Homeobox protein SIX1)
N79S (p.Asn79Ser) in SIX1 (Homeobox protein SIX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
N79S (p.Asn79Ser) variant details
- p.Asn79Ser
- ExAC rs767354178
- TOPMed rs767354178
- gnomAD rs767354178
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- CADD 22.20
- PolyPhen-2 0.02
- SIFT 0.20
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available