P7S (p.Pro7Ser) variant of DNMT1 (P26358)
P7S (p.Pro7Ser) 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 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
P7S (p.Pro7Ser) variant details
- p.Pro7Ser
- rs766984573
- ClinGen CA9188885
- ClinVar RCV001866672
- ExAC rs766984573
- Uncertain significance
- Hereditary sensory neuropathy-deafness-dementia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.13
- AlphaMissense 0.31
- MetaLR 0.08
- MetaSVM -1.04
- CADD 23.60
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Hereditary sensory neuropathy-deafness-dementia syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: DNMT1-Related Disorder. (PMID 22338191)