S6R (p.Ser6Arg) variant of IDH1 (O75874)
S6R (p.Ser6Arg) in IDH1 (O75874) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
S6R (p.Ser6Arg) variant details
- p.Ser6Arg
- Ensembl rs1001692730
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.26
- CADD 17.90
- PolyPhen-2 0.00
- SIFT 0.30
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available