V66M (p.Val66Met) variant of SATB2 (DNA-binding protein SATB2)
V66M (p.Val66Met) in SATB2 (DNA-binding protein SATB2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
V66M (p.Val66Met) variant details
- p.Val66Met
- cosmic curated COSV53488
- TOPMed rs1252596825
- gnomAD rs1252596825
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- REVEL 0.22
- ESM-1b 0.86
- AlphaMissense 0.99
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available