Y34C (p.Tyr34Cys) variant of IDH1 (O75874)
Y34C (p.Tyr34Cys) in IDH1 (O75874) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
Y34C (p.Tyr34Cys) variant details
- p.Tyr34Cys
- cosmic curated COSV61626
- gnomAD rs1253479303
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- REVEL 0.71
- CADD 24.90
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available