N111I (p.Asn111Ile) variant of DNMT1 (P26358)
N111I (p.Asn111Ile) in DNMT1 (P26358) is a missense change. Clinical records from ClinVar, EBI, 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 0.31 / 1. The record also includes published literature and structural context.
N111I (p.Asn111Ile) variant details
- p.Asn111Ile
- rs906790753
- ClinGen CA403946389
- ClinVar RCV003641415
- Uncertain significance
- Hereditary sensory neuropathy-deafness-dementia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- AlphaMissense 0.05
- MetaLR 0.01
- MetaSVM -0.98
- PolyPhen-2 0.00
- SIFT 1.00
- MutPred 0.23
- ClinVar: Uncertain significance (Hereditary sensory neuropathy-deafness-dementia syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: DNMT1-Related Disorder. (PMID 22338191)