F7L (p.Phe7Leu) variant of SIX1 (Homeobox protein SIX1)
F7L (p.Phe7Leu) in SIX1 (Homeobox protein SIX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, experimental measurements, and structural context.
F7L (p.Phe7Leu) variant details
- p.Phe7Leu
- Ensembl rs2140241522
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- CADD 17.10
- PolyPhen-2 0.00
- SIFT 0.06
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- SIX1 Homeobox domain domainome 1.0: score -0.15