P42R (p.Pro42Arg) variant of PIM1 (P11309)
P42R (p.Pro42Arg) in PIM1 (P11309) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
P42R (p.Pro42Arg) variant details
- p.Pro42Arg
- ExAC rs766108688
- gnomAD rs766108688
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.07
- CADD 23.80
- PolyPhen-2 0.18
- SIFT 0.03
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available