A125T (p.Ala125Thr) variant of DNMT1 (P26358)
A125T (p.Ala125Thr) 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 0.09 / 1. The record also includes population frequency data and structural context.
A125T (p.Ala125Thr) variant details
- p.Ala125Thr
- rs1417767085
- ClinGen CA403946259
- ClinVar RCV003129082
- gnomAD rs1417767085
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0863
- REVEL 0.03
- CADD 3.02
- PolyPhen-2 0.05
- SIFT 0.50
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available