R49C (p.Arg49Cys) variant of IDH1 (O75874)
R49C (p.Arg49Cys) in IDH1 (O75874) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
R49C (p.Arg49Cys) variant details
- p.Arg49Cys
- rs758524291
- NCI-TCGA Cosmic COSV6162
- cosmic curated COSV61624
- ExAC rs758524291
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.64
- CADD 25.50
- PolyPhen-2 0.01
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available