V55M (p.Val55Met) variant of SIX1 (Homeobox protein SIX1)
V55M (p.Val55Met) in SIX1 (Homeobox protein SIX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
V55M (p.Val55Met) variant details
- p.Val55Met
- ExAC rs770253091
- gnomAD rs770253091
- Missense
- Variant Prioritization Score for Impact Estimate 0.73
- CADD 23.00
- PolyPhen-2 0.07
- SIFT 0.11
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available