N81H (p.Asn81His) variant of MTOR (P42345)
N81H (p.Asn81His) in MTOR (P42345) is a missense change. 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.
N81H (p.Asn81His) variant details
- p.Asn81His
- ExAC rs765748677
- gnomAD rs765748677
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.09
- CADD 22.50
- PolyPhen-2 0.01
- SIFT 0.20
- Most common in the South Asian population (allele frequency 5.8e-05)
- Structural context available