P18T (p.Pro18Thr) variant of KEAP1 (Q14145)
P18T (p.Pro18Thr) in KEAP1 (Q14145) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
P18T (p.Pro18Thr) variant details
- p.Pro18Thr
- TOPMed rs1409836286
- gnomAD rs1409836286
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- REVEL 0.29
- CADD 19.80
- PolyPhen-2 0.23
- SIFT 0.18
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available