A137T (p.Ala137Thr) variant of SATB2 (DNA-binding protein SATB2)
A137T (p.Ala137Thr) in SATB2 (DNA-binding protein SATB2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
A137T (p.Ala137Thr) variant details
- p.Ala137Thr
- cosmic curated COSV53480
- TOPMed rs1454219036
- gnomAD rs1454219036
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.561
- REVEL 0.33
- ESM-1b 1.00
- AlphaMissense 0.52
- CADD 25.00
- PolyPhen-2 0.50
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available