L38F (p.Leu38Phe) variant of CDK12 (Cyclin-dependent kinase 12)
L38F (p.Leu38Phe) 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 0.40 / 1. The record also includes population frequency data and structural context.
L38F (p.Leu38Phe) variant details
- p.Leu38Phe
- Ensembl rs2144850249
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.11
- CADD 26.30
- PolyPhen-2 0.99
- SIFT 0.04
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the HGDP:DRUZE population (allele frequency 0.014)
- Structural context available