P41R (p.Pro41Arg) variant of TET2 (Methylcytosine dioxygenase TET2)
P41R (p.Pro41Arg) in TET2 (Methylcytosine dioxygenase TET2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
P41R (p.Pro41Arg) variant details
- p.Pro41Arg
- gnomAD 4-105234064-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.09
- MetaLR 0.06
- MetaSVM -1.03
- CADD 14.40
- PolyPhen-2 0.09
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available