N100K (p.Asn100Lys) variant of DNMT1 (P26358)
N100K (p.Asn100Lys) in DNMT1 (P26358) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
N100K (p.Asn100Lys) variant details
- p.Asn100Lys
- ExAC rs752966527
- gnomAD rs752966527
- Missense
- Variant Prioritization Score for Impact Estimate 0.114
- REVEL 0.03
- CADD 6.43
- PolyPhen-2 0.04
- SIFT 0.47
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available