M4I (p.Met4Ile) variant of DNMT3A (Q9Y6K1)
M4I (p.Met4Ile) in DNMT3A (Q9Y6K1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
M4I (p.Met4Ile) variant details
- p.Met4Ile
- rs1457508951
- gnomAD rs1457508951
- ClinGen CA346254519
- ClinVar RCV001755679
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- REVEL 0.53
- MetaLR 0.75
- MetaSVM 0.81
- CADD 22.90
- PolyPhen-2 0.02
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 4e-05)
- Structural context available