P11A (p.Pro11Ala) variant of DNMT1 (P26358)
P11A (p.Pro11Ala) in DNMT1 (P26358) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes published literature and structural context.
P11A (p.Pro11Ala) variant details
- p.Pro11Ala
- rs1216341078
- ClinGen CA403950234
- ClinVar RCV002322954
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- AlphaMissense 0.14
- MetaLR 0.04
- MetaSVM -1.02
- PolyPhen-2 0.30
- SIFT 0.02
- MutPred 0.31
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)