N79H (p.Asn79His) variant of SIX1 (Homeobox protein SIX1)
N79H (p.Asn79His) 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.
N79H (p.Asn79His) variant details
- p.Asn79His
- gnomAD 14-60648955-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.589
- CADD 23.20
- PolyPhen-2 0.05
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available