I39T (p.Ile39Thr) variant of CHEK1 (O14757)
I39T (p.Ile39Thr) in CHEK1 (O14757) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
I39T (p.Ile39Thr) variant details
- p.Ile39Thr
- cosmic curated COSV54025
- ESP rs367942205
- ExAC rs367942205
- TOPMed rs367942205
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.20
- CADD 21.60
- PolyPhen-2 0.36
- SIFT 0.11
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available