N118S (p.Asn118Ser) variant of MTOR (P42345)
N118S (p.Asn118Ser) 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 0.20 / 1. The record also includes population frequency data and structural context.
N118S (p.Asn118Ser) variant details
- p.Asn118Ser
- rs771585496
- ClinGen CA590956
- ClinVar RCV003422577
- ExAC rs771585496
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.11
- CADD 18.70
- PolyPhen-2 0.00
- SIFT 0.46
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available