K30N (p.Lys30Asn) variant of SATB2 (DNA-binding protein SATB2)
K30N (p.Lys30Asn) 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.
K30N (p.Lys30Asn) variant details
- p.Lys30Asn
- gnomAD rs1176548430
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- REVEL 0.20
- ESM-1b 1.00
- AlphaMissense 0.96
- CADD 28.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available