T20I (p.Thr20Ile) variant of WEE1 (Wee1-like protein kinase)
T20I (p.Thr20Ile) in WEE1 (Wee1-like protein kinase) is a missense change. Clinical records from ClinVar, EBI, 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 0.14 / 1. The record also includes population frequency data and structural context.
T20I (p.Thr20Ile) variant details
- p.Thr20Ile
- gnomAD rs1302989028
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.14
- REVEL 0.03
- CADD 19.40
- PolyPhen-2 0.00
- SIFT 0.14
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available