S19L (p.Ser19Leu) variant of DNMT1 (P26358)
S19L (p.Ser19Leu) in DNMT1 (P26358) is a missense change. Clinical records from ClinVar, EBI, 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, published literature, and structural context.
S19L (p.Ser19Leu) variant details
- p.Ser19Leu
- rs747559452
- ClinGen CA9188875
- ClinVar RCV000414738
- ClinVar RCV000806365
- Uncertain significance
- not provided; Hereditary sensory neuropathy-deafness-dementia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.13
- CADD 24.00
- PolyPhen-2 0.61
- SIFT 0.13
- ClinVar: Uncertain significance (not provided; Hereditary sensory neuropathy-deafness-dementia sy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: DNMT1-Related Disorder. (PMID 22338191)