N18K (p.Asn18Lys) variant of PIM1 (P11309)
N18K (p.Asn18Lys) in PIM1 (P11309) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
N18K (p.Asn18Lys) variant details
- p.Asn18Lys
- gnomAD 6-37170629-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.14
- CADD 15.60
- PolyPhen-2 0.04
- SIFT 0.92
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available