S17G (p.Ser17Gly) variant of MTOR (P42345)
S17G (p.Ser17Gly) in MTOR (P42345) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
S17G (p.Ser17Gly) variant details
- p.Ser17Gly
- ExAC rs760048895
- gnomAD rs760048895
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.16
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.14
- Most common in the South Asian population (allele frequency 2.4e-05)
- Structural context available