S17N (p.Ser17Asn) variant of MTOR (P42345)
S17N (p.Ser17Asn) in MTOR (P42345) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
S17N (p.Ser17Asn) variant details
- p.Ser17Asn
- rs200587372
- ClinGen CA591035
- ClinVar RCV001882218
- 1000Genomes rs200587372
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.15
- CADD 22.30
- PolyPhen-2 0.01
- SIFT 0.09
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available