V65I (p.Val65Ile) variant of SATB2 (DNA-binding protein SATB2)
V65I (p.Val65Ile) in SATB2 (DNA-binding protein SATB2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
V65I (p.Val65Ile) variant details
- p.Val65Ile
- ExAC rs749125541
- gnomAD rs749125541
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.08
- ESM-1b 1.00
- AlphaMissense 0.13
- CADD 23.40
- PolyPhen-2 0.62
- SIFT 0.08
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available