N48S (p.Asn48Ser) variant of SATB2 (DNA-binding protein SATB2)
N48S (p.Asn48Ser) in SATB2 (DNA-binding protein SATB2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
N48S (p.Asn48Ser) variant details
- p.Asn48Ser
- gnomAD rs1467878282
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.12
- MetaSVM -0.88
- CADD 22.80
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available