P129H (p.Pro129His) variant of DNMT1 (P26358)
P129H (p.Pro129His) in DNMT1 (P26358) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
P129H (p.Pro129His) variant details
- p.Pro129His
- ESP rs370207020
- ExAC rs370207020
- TOPMed rs370207020
- gnomAD rs370207020
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.12
- AlphaMissense 0.08
- MetaLR 0.07
- MetaSVM -0.97
- CADD 21.70
- PolyPhen-2 0.75
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available