C40G (p.Cys40Gly) variant of SIX1 (Homeobox protein SIX1)
C40G (p.Cys40Gly) 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, experimental measurements, and structural context.
C40G (p.Cys40Gly) variant details
- p.Cys40Gly
- ExAC rs767478646
- gnomAD rs767478646
- Missense
- Variant Prioritization Score for Impact Estimate 0.59
- CADD 23.70
- PolyPhen-2 0.02
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- SIX1 Homeobox domain domainome 1.0: score -0.339