I158N (p.Ile158Asn) variant of DNMT3A (Q9Y6K1)
I158N (p.Ile158Asn) in DNMT3A (Q9Y6K1) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic in the context of Tatton-Brown-Rahman overgrowth syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
I158N (p.Ile158Asn) variant details
- p.Ile158Asn
- Ensembl rs2031332746
- Pathogenic
- Tatton-Brown-Rahman overgrowth syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.24
- MetaLR 0.54
- MetaSVM -0.34
- CADD 22.60
- PolyPhen-2 0.06
- SIFT 0.28
- ClinVar: Pathogenic (Tatton-Brown-Rahman overgrowth syndrome)
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available