L13Q (p.Leu13Gln) variant of DNMT1 (P26358)
L13Q (p.Leu13Gln) in DNMT1 (P26358) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
L13Q (p.Leu13Gln) variant details
- p.Leu13Gln
- gnomAD rs1348019056
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.18
- CADD 24.00
- PolyPhen-2 1.00
- SIFT 0.11
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available