P49T (p.Pro49Thr) variant of CHEK1 (O14757)
P49T (p.Pro49Thr) in CHEK1 (O14757) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
P49T (p.Pro49Thr) variant details
- p.Pro49Thr
- TOPMed rs1940678451
- gnomAD rs1940678451
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.08
- CADD 19.30
- PolyPhen-2 0.04
- SIFT 0.61
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available