A8G (p.Ala8Gly) variant of DNMT1 (P26358)
A8G (p.Ala8Gly) 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 0.33 / 1. The record also includes published literature and structural context.
A8G (p.Ala8Gly) variant details
- p.Ala8Gly
- rs994411260
- ClinGen CA305193780
- ClinVar RCV003852690
- TOPMed rs994411260
- Uncertain significance
- Hereditary sensory neuropathy-deafness-dementia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- AlphaMissense 0.21
- MetaLR 0.07
- MetaSVM -1.06
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.15
- 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)