S6G (p.Ser6Gly) variant of IDH1 (O75874)
S6G (p.Ser6Gly) in IDH1 (O75874) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
S6G (p.Ser6Gly) variant details
- p.Ser6Gly
- rs141118556
- ClinGen CA2079115
- cosmic curated COSV61620
- ClinVar RCV004060505
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.20
- CADD 17.70
- PolyPhen-2 0.00
- SIFT 0.21
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available