L21P (p.Leu21Pro) variant of SIX1 (Homeobox protein SIX1)
L21P (p.Leu21Pro) in SIX1 (Homeobox protein SIX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, experimental measurements, and structural context.
L21P (p.Leu21Pro) variant details
- p.Leu21Pro
- gnomAD rs1206708089
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- SIX1 Homeobox domain domainome 1.0: score -0.469