L48V (p.Leu48Val) variant of DNMT1 (P26358)
L48V (p.Leu48Val) 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 0.50 / 1. The record also includes population frequency data and structural context.
L48V (p.Leu48Val) variant details
- p.Leu48Val
- NCI-TCGA Cosmic COSV6158
- cosmic curated COSV61580
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- REVEL 0.39
- CADD 24.50
- PolyPhen-2 0.99
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available