T20I (p.Thr20Ile) variant of CDK12 (Cyclin-dependent kinase 12)
T20I (p.Thr20Ile) 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 0.38 / 1. The record also includes population frequency data and structural context.
T20I (p.Thr20Ile) variant details
- p.Thr20Ile
- cosmic curated COSV10471
- ExAC rs776072090
- gnomAD rs776072090
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.10
- CADD 23.70
- PolyPhen-2 0.84
- SIFT 0.22
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available