N111K (p.Asn111Lys) variant of DNMT1 (P26358)
N111K (p.Asn111Lys) in DNMT1 (P26358) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
N111K (p.Asn111Lys) variant details
- p.Asn111Lys
- ExAC rs770318428
- TOPMed rs770318428
- gnomAD rs770318428
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.154
- REVEL 0.05
- CADD 14.60
- PolyPhen-2 0.03
- SIFT 0.13
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available