H80N (p.His80Asn) variant of SIX1 (Homeobox protein SIX1)
H80N (p.His80Asn) in SIX1 (Homeobox protein SIX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
H80N (p.His80Asn) variant details
- p.His80Asn
- gnomAD 14-60648952-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.799
- CADD 29.20
- PolyPhen-2 0.69
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available