S6N (p.Ser6Asn) variant of IDH1 (O75874)
S6N (p.Ser6Asn) in IDH1 (O75874) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
S6N (p.Ser6Asn) variant details
- p.Ser6Asn
- Ensembl rs2124868417
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.36
- CADD 5.95
- PolyPhen-2 0.00
- SIFT 0.29
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available