L34Q (p.Leu34Gln) variant of SATB2 (DNA-binding protein SATB2)
L34Q (p.Leu34Gln) in SATB2 (DNA-binding protein SATB2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes structural context.
L34Q (p.Leu34Gln) variant details
- p.Leu34Gln
- rs2469069751
- ClinGen CA350388487
- ClinVar RCV003443296
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.658
- ESM-1b 1.00
- AlphaMissense 0.25
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available