H44Y (p.His44Tyr) variant of SIX1 (Homeobox protein SIX1)
H44Y (p.His44Tyr) 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, published literature, and structural context.
H44Y (p.His44Tyr) variant details
- p.His44Tyr
- gnomAD 14-60649060-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.72
- CADD 23.10
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- SIX1 Homeobox domain domainome 1.0: score -0.666
- Literature evidence available