A52V (p.Ala52Val) variant of SATB2 (DNA-binding protein SATB2)
A52V (p.Ala52Val) 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 0.30 / 1. The record also includes population frequency data and structural context.
A52V (p.Ala52Val) variant details
- p.Ala52Val
- rs1357016064
- ClinGen CA350388366
- ClinVar RCV000762309
- TOPMed rs1357016064
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 23.30
- PolyPhen-2 0.07
- SIFT 0.30
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available