L90V (p.Leu90Val) variant of DNMT1 (P26358)
L90V (p.Leu90Val) in DNMT1 (P26358) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
L90V (p.Leu90Val) variant details
- p.Leu90Val
- rs779818604
- ExAC rs779818604
- TOPMed rs779818604
- gnomAD rs779818604
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.17
- CADD 24.40
- PolyPhen-2 0.99
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available