P19L (p.Pro19Leu) variant of IDH2 (P48735)
P19L (p.Pro19Leu) in IDH2 (P48735) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
P19L (p.Pro19Leu) variant details
- p.Pro19Leu
- ExAC rs745652382
- gnomAD rs745652382
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.09
- CADD 15.50
- PolyPhen-2 0.00
- SIFT 0.89
- Most common in the Finnish in Finland (FIN) population (allele frequency 7.1e-05)
- Structural context available