P20L (p.Pro20Leu) variant of TET2 (Methylcytosine dioxygenase TET2)
P20L (p.Pro20Leu) in TET2 (Methylcytosine dioxygenase TET2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
P20L (p.Pro20Leu) variant details
- p.Pro20Leu
- gnomAD 4-105234001-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.07
- MetaLR 0.07
- MetaSVM -0.97
- CADD 22.70
- PolyPhen-2 0.02
- SIFT 0.05
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available