P128S (p.Pro128Ser) variant of DNMT1 (P26358)
P128S (p.Pro128Ser) 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; Autosomal dominant cerebellar ataxia, deafness and narc. 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.
P128S (p.Pro128Ser) variant details
- p.Pro128Ser
- rs146601335
- ClinGen CA9188776
- ClinVar RCV000649363
- ClinVar RCV002358866
- Conflicting interpretations
- Inborn genetic diseases; Autosomal dominant cerebellar ataxia, deafness and narc
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.02
- CADD 0.37
- PolyPhen-2 0.00
- SIFT 0.92
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Autosomal dominant cerebellar ataxia, d)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: DNMT1-Related Disorder. (PMID 22338191)