P7A (p.Pro7Ala) variant of DNMT1 (P26358)
P7A (p.Pro7Ala) 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 0.35 / 1. The record also includes published literature and structural context.
P7A (p.Pro7Ala) variant details
- p.Pro7Ala
- rs766984573
- ClinGen CA403950254
- ClinVar RCV003641677
- Uncertain significance
- Hereditary sensory neuropathy-deafness-dementia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- AlphaMissense 0.31
- MetaLR 0.08
- MetaSVM -1.04
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.29
- ClinVar: Uncertain significance (Hereditary sensory neuropathy-deafness-dementia syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: DNMT1-Related Disorder. (PMID 22338191)