P16Q (p.Pro16Gln) variant of DNMT1 (P26358)
P16Q (p.Pro16Gln) in DNMT1 (P26358) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
P16Q (p.Pro16Gln) variant details
- p.Pro16Gln
- TOPMed rs1476955893
- gnomAD rs1476955893
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.04
- CADD 19.20
- PolyPhen-2 0.44
- SIFT 0.53
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available