S35N (p.Ser35Asn) variant of DNMT1 (P26358)
S35N (p.Ser35Asn) in DNMT1 (P26358) is a missense change. Clinical records from ClinVar 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 0.24 / 1. The record also includes population frequency data and structural context.
S35N (p.Ser35Asn) variant details
- p.Ser35Asn
- ExAC rs751109006
- gnomAD rs751109006
- Likely benign
- Hereditary sensory neuropathy-deafness-dementia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.08
- CADD 13.80
- PolyPhen-2 0.29
- SIFT 0.72
- ClinVar: Likely benign (Hereditary sensory neuropathy-deafness-dementia syndrome)
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available