H8P (p.His8Pro) variant of TET2 (Methylcytosine dioxygenase TET2)
H8P (p.His8Pro) in TET2 (Methylcytosine dioxygenase TET2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
H8P (p.His8Pro) variant details
- p.His8Pro
- gnomAD 4-105233965-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.43
- MetaLR 0.24
- MetaSVM -0.81
- CADD 25.60
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available