E65D (p.Glu65Asp) variant of SIX1 (Homeobox protein SIX1)
E65D (p.Glu65Asp) in SIX1 (Homeobox protein SIX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
E65D (p.Glu65Asp) variant details
- p.Glu65Asp
- gnomAD 14-60648995-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- CADD 22.30
- PolyPhen-2 0.05
- SIFT 0.09
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available