A54E (p.Ala54Glu) variant of SIX1 (Homeobox protein SIX1)
A54E (p.Ala54Glu) in SIX1 (Homeobox protein SIX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
A54E (p.Ala54Glu) variant details
- p.Ala54Glu
- cosmic curated COSV55959
- Missense
- Variant Prioritization Score for Impact Estimate 0.821
- CADD 31.00
- PolyPhen-2 0.91
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available