A14S (p.Ala14Ser) variant of IDH2 (P48735)
A14S (p.Ala14Ser) in IDH2 (P48735) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
A14S (p.Ala14Ser) variant details
- p.Ala14Ser
- cosmic curated COSV57473
- Ensembl rs1901359085
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.13
- CADD 17.30
- PolyPhen-2 0.00
- SIFT 0.32
- Most common in the South Asian population (allele frequency 1.7e-05)
- Structural context available