A123G (p.Ala123Gly) variant of DNMT1 (P26358)
A123G (p.Ala123Gly) in DNMT1 (P26358) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
A123G (p.Ala123Gly) variant details
- p.Ala123Gly
- rs1085307725
- ClinGen CA403946273
- ClinVar RCV000490029
- TOPMed rs1085307725
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.02
- CADD 17.30
- PolyPhen-2 0.25
- SIFT 0.09
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available