P29A (p.Pro29Ala) variant of TET2 (Methylcytosine dioxygenase TET2)
P29A (p.Pro29Ala) in TET2 (Methylcytosine dioxygenase TET2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
P29A (p.Pro29Ala) variant details
- p.Pro29Ala
- gnomAD 4-105234027-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.159
- REVEL 0.04
- MetaLR 0.06
- MetaSVM -1.08
- CADD 13.80
- PolyPhen-2 0.11
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available