L27V (p.Leu27Val) variant of SIX1 (Homeobox protein SIX1)
L27V (p.Leu27Val) in SIX1 (Homeobox protein SIX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, experimental measurements, and structural context.
L27V (p.Leu27Val) variant details
- p.Leu27Val
- 1000Genomes rs544164466
- ExAC rs544164466
- TOPMed rs544164466
- gnomAD rs544164466
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.34
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- SIX1 Homeobox domain domainome 1.0: score -0.163