I60L (p.Ile60Leu) variant of SATB2 (DNA-binding protein SATB2)
I60L (p.Ile60Leu) in SATB2 (DNA-binding protein SATB2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
I60L (p.Ile60Leu) variant details
- p.Ile60Leu
- Ensembl rs2105929068
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.13
- CADD 18.60
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available