T104A (p.Thr104Ala) variant of IDH2 (P48735)
T104A (p.Thr104Ala) in IDH2 (P48735) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
T104A (p.Thr104Ala) variant details
- p.Thr104Ala
- ExAC rs776827975
- gnomAD rs776827975
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.16
- CADD 24.00
- PolyPhen-2 0.13
- SIFT 0.03
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available