R9Q (p.Arg9Gln) variant of DNMT1 (P26358)
R9Q (p.Arg9Gln) in DNMT1 (P26358) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
R9Q (p.Arg9Gln) variant details
- p.Arg9Gln
- ExAC rs759577079
- TOPMed rs759577079
- gnomAD rs759577079
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.10
- CADD 28.80
- PolyPhen-2 0.99
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available