V55L (p.Val55Leu) variant of SIX1 (Homeobox protein SIX1)
V55L (p.Val55Leu) in SIX1 (Homeobox protein SIX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
V55L (p.Val55Leu) variant details
- p.Val55Leu
- gnomAD 14-60649027-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.716
- CADD 21.20
- PolyPhen-2 0.00
- SIFT 0.29
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Literature evidence available