D23N (p.Asp23Asn) variant of DNMT1 (P26358)
D23N (p.Asp23Asn) in DNMT1 (P26358) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided; Hereditary sensory neuropathy-deafness-dementia syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
D23N (p.Asp23Asn) variant details
- p.Asp23Asn
- rs1257821053
- gnomAD rs1257821053
- Uncertain significance
- not provided; Hereditary sensory neuropathy-deafness-dementia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.15
- CADD 23.10
- PolyPhen-2 0.24
- SIFT 0.18
- ClinVar: Uncertain significance (not provided; Hereditary sensory neuropathy-deafness-dementia sy)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available