P128T (p.Pro128Thr) variant of DNMT1 (P26358)
P128T (p.Pro128Thr) in DNMT1 (P26358) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not provided; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
P128T (p.Pro128Thr) variant details
- p.Pro128Thr
- rs146601335
- ClinGen CA9188775
- cosmic curated COSV61582
- ClinVar RCV000235285
- Conflicting interpretations
- Inborn genetic diseases; not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.01
- CADD 1.75
- PolyPhen-2 0.11
- SIFT 0.36
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided; not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: DNMT1-Related Disorder. (PMID 22338191)