P69L (p.Pro69Leu) variant of DNMT3A (Q9Y6K1)
P69L (p.Pro69Leu) in DNMT3A (Q9Y6K1) 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 0.33 / 1. The record also includes population frequency data and structural context.
P69L (p.Pro69Leu) variant details
- p.Pro69Leu
- rs2031976051
- ClinGen CA346084148
- ClinVar RCV002305936
- TOPMed rs2031976051
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.11
- MetaLR 0.55
- MetaSVM -0.43
- CADD 16.30
- PolyPhen-2 0.00
- SIFT 0.72
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available