V56G (p.Val56Gly) variant of SIX1 (Homeobox protein SIX1)
V56G (p.Val56Gly) 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, published literature, and structural context.
V56G (p.Val56Gly) variant details
- p.Val56Gly
- gnomAD 14-60649023-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- CADD 32.00
- PolyPhen-2 0.88
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available