T31N (p.Thr31Asn) variant of CHEK1 (O14757)
T31N (p.Thr31Asn) in CHEK1 (O14757) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
T31N (p.Thr31Asn) variant details
- p.Thr31Asn
- gnomAD rs1191531722
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.26
- CADD 19.90
- PolyPhen-2 0.15
- SIFT 0.06
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available