Y524S (p.Tyr524Ser) variant of DNMT1 (P26358)
Y524S (p.Tyr524Ser) in DNMT1 (P26358) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary sensory neuropathy-deafness-dementia syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes published literature and structural context.
Y524S (p.Tyr524Ser) variant details
- p.Tyr524Ser
- rs1599366421
- ClinGen CA403935772
- ClinVar RCV001378601
- Ensembl rs1599366421
- Likely pathogenic
- Hereditary sensory neuropathy-deafness-dementia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- AlphaMissense 0.98
- MetaLR 0.70
- MetaSVM 0.55
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.84
- ClinVar: Likely pathogenic (Hereditary sensory neuropathy-deafness-dementia syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: DNMT1-Related Disorder. (PMID 22338191)