P128A (p.Pro128Ala) variant of DNMT1 (P26358)
P128A (p.Pro128Ala) in DNMT1 (P26358) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
P128A (p.Pro128Ala) variant details
- p.Pro128Ala
- cosmic curated COSV10743
- ESP rs146601335
- ExAC rs146601335
- TOPMed rs146601335
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.01
- CADD 1.50
- PolyPhen-2 0.07
- SIFT 0.24
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available