P129R (p.Pro129Arg) variant of DNMT1 (P26358)
P129R (p.Pro129Arg) 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 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
P129R (p.Pro129Arg) variant details
- p.Pro129Arg
- rs370207020
- ClinGen CA9188772
- ClinVar RCV003095819
- ESP rs370207020
- Uncertain significance
- Hereditary sensory neuropathy-deafness-dementia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.08
- AlphaMissense 0.08
- MetaLR 0.07
- MetaSVM -0.97
- CADD 17.30
- PolyPhen-2 0.75
- ClinVar: Uncertain significance (Hereditary sensory neuropathy-deafness-dementia syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: DNMT1-Related Disorder. (PMID 22338191)