L30P (p.Leu30Pro) variant of TET2 (Methylcytosine dioxygenase TET2)
L30P (p.Leu30Pro) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
L30P (p.Leu30Pro) variant details
- p.Leu30Pro
- ExAC rs767145286
- TOPMed rs767145286
- gnomAD rs767145286
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.18
- MetaLR 0.15
- MetaSVM -0.86
- CADD 24.40
- PolyPhen-2 0.95
- SIFT 0.25
- ClinVar: Uncertain significance (not specified; not provided)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available