G8A (p.Gly8Ala) variant of SIX1 (Homeobox protein SIX1)
G8A (p.Gly8Ala) 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, experimental measurements, and structural context.
G8A (p.Gly8Ala) variant details
- p.Gly8Ala
- ExAC rs778375446
- gnomAD rs778375446
- Missense
- Variant Prioritization Score for Impact Estimate 0.717
- CADD 21.40
- PolyPhen-2 0.01
- SIFT 0.06
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- SIX1 Homeobox domain domainome 1.0: score -0.0906