H8D (p.His8Asp) variant of TET2 (Methylcytosine dioxygenase TET2)
H8D (p.His8Asp) in TET2 (Methylcytosine dioxygenase TET2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
H8D (p.His8Asp) variant details
- p.His8Asp
- rs147112198
- ClinGen CA3031433
- cosmic curated COSV10879
- ClinVar RCV002938973
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.26
- MetaLR 0.26
- MetaSVM -0.70
- CADD 24.40
- PolyPhen-2 0.92
- SIFT 0.01
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.0024)
- Structural context available