M53V (p.Met53Val) variant of CDK12 (Cyclin-dependent kinase 12)
M53V (p.Met53Val) 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 0.11 / 1. The record also includes population frequency data and structural context.
M53V (p.Met53Val) variant details
- p.Met53Val
- Ensembl rs754262105
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.107
- REVEL 0.05
- CADD 14.50
- PolyPhen-2 0.01
- SIFT 1.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.1e-05)
- Structural context available