A123T (p.Ala123Thr) variant of DNMT1 (P26358)
A123T (p.Ala123Thr) in DNMT1 (P26358) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
A123T (p.Ala123Thr) variant details
- p.Ala123Thr
- TOPMed rs2039024197
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.03
- CADD 15.20
- PolyPhen-2 0.01
- SIFT 0.12
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available