N59K (p.Asn59Lys) variant of DNMT1 (P26358)
N59K (p.Asn59Lys) in DNMT1 (P26358) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hereditary sensory neuropathy-deafness-dementia syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
N59K (p.Asn59Lys) variant details
- p.Asn59Lys
- gnomAD rs1351910032
- Uncertain significance
- Hereditary sensory neuropathy-deafness-dementia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.11
- CADD 21.60
- PolyPhen-2 0.17
- SIFT 0.07
- ClinVar: Uncertain significance (Hereditary sensory neuropathy-deafness-dementia syndrome)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available