V9I (p.Val9Ile) variant of TET2 (Methylcytosine dioxygenase TET2)
V9I (p.Val9Ile) in TET2 (Methylcytosine dioxygenase TET2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. 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.
V9I (p.Val9Ile) variant details
- p.Val9Ile
- cosmic curated COSV54409
- TOPMed rs1322914073
- gnomAD rs1322914073
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.13
- MetaLR 0.08
- MetaSVM -0.95
- CADD 20.10
- PolyPhen-2 0.16
- SIFT 0.10
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available