P32L (p.Pro32Leu) variant of DNMT3A (Q9Y6K1)
P32L (p.Pro32Leu) 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 0.27 / 1. The record also includes population frequency data and structural context.
P32L (p.Pro32Leu) variant details
- p.Pro32Leu
- rs1200194867
- ClinGen CA346251745
- cosmic curated COSV10510
- ClinVar RCV003407176
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.17
- MetaLR 0.50
- MetaSVM -0.45
- CADD 14.80
- PolyPhen-2 0.00
- SIFT 0.09
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available