K48N (p.Lys48Asn) variant of IDH2 (P48735)
K48N (p.Lys48Asn) in IDH2 (P48735) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
K48N (p.Lys48Asn) variant details
- p.Lys48Asn
- ExAC rs773071883
- gnomAD rs773071883
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- REVEL 0.10
- CADD 17.50
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available