P29R (p.Pro29Arg) variant of TET2 (Methylcytosine dioxygenase TET2)
P29R (p.Pro29Arg) in TET2 (Methylcytosine dioxygenase TET2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
P29R (p.Pro29Arg) variant details
- p.Pro29Arg
- rs12498609
- ClinGen CA162345
- cosmic curated COSV54402
- ClinVar RCV000122131
- Benign
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.08
- MetaLR 0.00
- MetaSVM -1.05
- CADD 23.30
- PolyPhen-2 0.56
- SIFT 0.00
- ClinVar: Benign (not specified; not provided)
- EBI: Benign (in dbSNP:rs12498609)
- UniProt: Benign (in dbSNP:rs12498609)
- Most common in the HGDP:SURUI population (allele frequency 0.71)
- Structural context available
- Cited in: Acquired mutations in TET2 are common in myelodysplastic syndromes. (PMID 19483684)