V62D (p.Val62Asp) variant of SATB2 (DNA-binding protein SATB2)
V62D (p.Val62Asp) in SATB2 (DNA-binding protein SATB2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes structural context.
V62D (p.Val62Asp) variant details
- p.Val62Asp
- rs1064796649
- ClinGen CA16617414
- ClinVar RCV000479021
- Ensembl rs1064796649
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.618
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.38
- MetaSVM -0.26
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available