L128F (p.Leu128Phe) variant of SATB2 (DNA-binding protein SATB2)
L128F (p.Leu128Phe) in SATB2 (DNA-binding protein SATB2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
L128F (p.Leu128Phe) variant details
- p.Leu128Phe
- Ensembl rs2105867984
- Missense
- Variant Prioritization Score for Impact Estimate 0.583
- REVEL 0.35
- ESM-1b 1.00
- AlphaMissense 0.81
- CADD 23.90
- PolyPhen-2 1.00
- SIFT 0.16
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- Structural context available