P23L (p.Pro23Leu) variant of CDK12 (Cyclin-dependent kinase 12)
P23L (p.Pro23Leu) 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 0.34 / 1. The record also includes population frequency data and structural context.
P23L (p.Pro23Leu) variant details
- p.Pro23Leu
- TOPMed rs761257011
- gnomAD rs761257011
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.12
- CADD 26.70
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available