A98S (p.Ala98Ser) variant of DNMT1 (P26358)
A98S (p.Ala98Ser) 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 0.29 / 1. The record also includes population frequency data and structural context.
A98S (p.Ala98Ser) variant details
- p.Ala98Ser
- ExAC rs755873606
- gnomAD rs755873606
- Uncertain significance
- Hereditary sensory neuropathy-deafness-dementia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.04
- CADD 7.61
- PolyPhen-2 0.00
- SIFT 0.48
- ClinVar: Uncertain significance (Hereditary sensory neuropathy-deafness-dementia syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available