T55A (p.Thr55Ala) variant of DNMT1 (P26358)
T55A (p.Thr55Ala) in DNMT1 (P26358) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign 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.
T55A (p.Thr55Ala) variant details
- p.Thr55Ala
- rs375585911
- ClinGen CA9188821
- ClinVar RCV001230908
- ESP rs375585911
- Likely benign
- Hereditary sensory neuropathy-deafness-dementia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.10
- CADD 22.80
- PolyPhen-2 0.99
- SIFT 0.76
- ClinVar: Likely benign (Hereditary sensory neuropathy-deafness-dementia syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: DNMT1-Related Disorder. (PMID 22338191)