S21P (p.Ser21Pro) variant of TET2 (Methylcytosine dioxygenase TET2)
S21P (p.Ser21Pro) in TET2 (Methylcytosine dioxygenase TET2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
S21P (p.Ser21Pro) variant details
- p.Ser21Pro
- cosmic curated COSV54427
- Missense
- Variant Prioritization Score for Impact Estimate 0.125
- REVEL 0.03
- MetaLR 0.05
- MetaSVM -1.01
- CADD 13.10
- PolyPhen-2 0.00
- SIFT 0.15
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available