S56N (p.Ser56Asn) variant of MTOR (P42345)
S56N (p.Ser56Asn) in MTOR (P42345) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
S56N (p.Ser56Asn) variant details
- p.Ser56Asn
- Ensembl rs1255639333
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.25
- CADD 23.70
- PolyPhen-2 0.81
- SIFT 0.08
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available