N81S (p.Asn81Ser) variant of MTOR (P42345)
N81S (p.Asn81Ser) in MTOR (P42345) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. 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.
N81S (p.Asn81Ser) variant details
- p.Asn81Ser
- rs997811327
- ClinGen CA17960113
- ClinVar RCV003557890
- TOPMed rs997811327
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.22
- CADD 23.00
- PolyPhen-2 0.45
- SIFT 0.13
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available