S21L (p.Ser21Leu) variant of TET2 (Methylcytosine dioxygenase TET2)
S21L (p.Ser21Leu) in TET2 (Methylcytosine dioxygenase TET2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
S21L (p.Ser21Leu) variant details
- p.Ser21Leu
- gnomAD 4-105234004-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.10
- MetaLR 0.07
- MetaSVM -1.03
- CADD 15.80
- PolyPhen-2 0.00
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available