H44L (p.His44Leu) variant of SIX1 (Homeobox protein SIX1)
H44L (p.His44Leu) 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, experimental measurements, published literature, and structural context.
H44L (p.His44Leu) variant details
- p.His44Leu
- gnomAD 14-60649059-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- CADD 23.30
- PolyPhen-2 0.02
- SIFT 0.00
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- SIX1 Homeobox domain domainome 1.0: score -0.666
- Literature evidence available