P129A (p.Pro129Ala) variant of DNMT1 (P26358)
P129A (p.Pro129Ala) 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 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
P129A (p.Pro129Ala) variant details
- p.Pro129Ala
- rs1085307715
- ClinGen CA403946216
- ClinVar RCV003033788
- gnomAD rs1085307715
- Uncertain significance
- Hereditary sensory neuropathy-deafness-dementia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.01
- CADD 1.76
- PolyPhen-2 0.07
- SIFT 0.23
- ClinVar: Uncertain significance (Hereditary sensory neuropathy-deafness-dementia syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: DNMT1-Related Disorder. (PMID 22338191)