V56L (p.Val56Leu) variant of SIX1 (Homeobox protein SIX1)
V56L (p.Val56Leu) in SIX1 (Homeobox protein SIX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
V56L (p.Val56Leu) variant details
- p.Val56Leu
- ExAC rs748718182
- TOPMed rs748718182
- gnomAD rs748718182
- Missense
- Variant Prioritization Score for Impact Estimate 0.742
- CADD 24.40
- PolyPhen-2 0.16
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available