N111S (p.Asn111Ser) variant of DNMT1 (P26358)
N111S (p.Asn111Ser) in DNMT1 (P26358) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Hereditary sensory neuropathy-deafness-dementia syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
N111S (p.Asn111Ser) variant details
- p.Asn111Ser
- rs906790753
- ClinGen CA305185005
- ClinVar RCV001370589
- TOPMed rs906790753
- Likely benign
- Hereditary sensory neuropathy-deafness-dementia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.127
- REVEL 0.02
- AlphaMissense 0.05
- MetaLR 0.01
- MetaSVM -0.98
- CADD 2.51
- PolyPhen-2 0.00
- ClinVar: Likely benign (Hereditary sensory neuropathy-deafness-dementia syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: DNMT1-Related Disorder. (PMID 22338191)