P2L (p.Pro2Leu) variant of CDK12 (Cyclin-dependent kinase 12)
P2L (p.Pro2Leu) in CDK12 (Cyclin-dependent kinase 12) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
P2L (p.Pro2Leu) variant details
- p.Pro2Leu
- Ensembl rs2144845113
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.583
- REVEL 0.44
- CADD 26.30
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available