P29L (p.Pro29Leu) variant of IDH2 (P48735)
P29L (p.Pro29Leu) in IDH2 (P48735) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
P29L (p.Pro29Leu) variant details
- p.Pro29Leu
- gnomAD rs1315214325
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.14
- CADD 19.90
- PolyPhen-2 0.00
- SIFT 0.20
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.0002)
- Structural context available