S9L (p.Ser9Leu) variant of DIP2B (Q9P265)
S9L (p.Ser9Leu) in DIP2B (Q9P265) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Intellectual disability, FRA12A type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
S9L (p.Ser9Leu) variant details
- p.Ser9Leu
- rs1466454746
- ClinGen CA384818980
- ClinVar RCV003146091
- TOPMed rs1466454746
- Uncertain significance
- Intellectual disability, FRA12A type
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.09
- MetaLR 0.04
- MetaSVM -1.06
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.20
- ClinVar: Uncertain significance (Intellectual disability, FRA12A type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available