S17L (p.Ser17Leu) variant of IDH2 (P48735)
S17L (p.Ser17Leu) in IDH2 (P48735) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
S17L (p.Ser17Leu) variant details
- p.Ser17Leu
- gnomAD rs1396836085
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.17
- CADD 17.20
- PolyPhen-2 0.00
- SIFT 0.17
- Most common in the REMAINING population (allele frequency 6.2e-05)
- Structural context available