N33I (p.Asn33Ile) variant of MTOR (P42345)
N33I (p.Asn33Ile) in MTOR (P42345) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
N33I (p.Asn33Ile) variant details
- p.Asn33Ile
- rs1186730850
- ClinGen CA338405298
- ClinVar RCV002156018
- TOPMed rs1186730850
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.23
- CADD 24.30
- PolyPhen-2 0.47
- SIFT 0.03
- ClinVar: Benign (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available