P49S (p.Pro49Ser) variant of IDH2 (P48735)
P49S (p.Pro49Ser) in IDH2 (P48735) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
P49S (p.Pro49Ser) variant details
- p.Pro49Ser
- TOPMed rs1164126819
- gnomAD rs1164126819
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- REVEL 0.45
- AlphaMissense 0.42
- MetaLR 0.57
- MetaSVM 0.28
- CADD 26.10
- PolyPhen-2 1.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available